clinvar - Robuta Search

https://www.ncbi.nlm.nih.gov/clinvar/RCV000074587.7/

NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs) AND not provided - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

nm c p

https://www.ncbi.nlm.nih.gov/clinvar/variation/35887/

VCV000035887.20 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/variation/576779/

VCV000576779.9 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/variation/3632/

VCV000003632.71 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/variation/416306/

VCV000416306.17 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/variation/262612/

VCV000262612.20 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/RCV002832999/

NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg) AND Polyglandular autoimmune syndrome, type 1 - ClinVar -...

ClinVar archives and aggregates information about relationships among variation and human health.

g p nm aire c

https://www.ncbi.nlm.nih.gov/clinvar/submitters/506439/

ClinGen RASopathy Variant Curation Expert Panel - Submitter - ClinVar

ClinVar archives and aggregates information about relationships among variation and human health.

clingen rasopathy variant curation expert

https://www.ncbi.nlm.nih.gov/clinvar/variation/2724904/

VCV002724904.2 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/RCV000710375/

NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) AND not provided - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

a p nm c

https://www.ncbi.nlm.nih.gov/clinvar/RCV000077753/

NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) AND Nephrotic syndrome, type 9 - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

t p nm c

https://www.ncbi.nlm.nih.gov/clinvar/variation/155073/

VCV000155073.2 - ClinVar - NCBI

clinvar ncbi

https://www.ncbi.nlm.nih.gov/clinvar/RCV000087393/

NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) AND Ehlers-Danlos syndrome, type 4 - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

t p nm c

https://www.ncbi.nlm.nih.gov/clinvar/RCV000248496/

NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) AND not specified - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

t p nm c

https://www.ncbi.nlm.nih.gov/clinvar/RCV000237463/

NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) AND Hypercholesterolemia, familial, 1 - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

a p nm ldlr c

https://www.ncbi.nlm.nih.gov/clinvar/RCV001920720/

NM_001032283.3(TMPO):c.565+995_565+998del AND Loeys-Dietz syndrome 2 - ClinVar - NCBI

ClinVar archives and aggregates information about relationships among variation and human health.

nm tmpo c

https://www.ncbi.nlm.nih.gov/clinvar/submitters/506273/

True Health Diagnostics - Submitter - ClinVar

ClinVar archives and aggregates information about relationships among variation and human health.

true health diagnostics submitter clinvar

https://www.ncbi.nlm.nih.gov/clinvar/variation/657010/

VCV000657010.9 - ClinVar - NCBI

clinvar ncbi