ClinVar for Gene (Select 653820) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092509	NM_001100910.2(FAM72B):c.89T>A (p.Met30Lys)	FAM72B (M30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092508	NM_001100910.2(FAM72B):c.77G>A (p.Ser26Asn)	FAM72B (S26N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092507	NM_001100910.2(FAM72B):c.377G>A (p.Gly126Asp)	FAM72B (G86D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092506	NM_001100910.2(FAM72B):c.326T>G (p.Val109Gly)	FAM72B (V109G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617605	NM_001100910.2(FAM72B):c.94G>C (p.Ala32Pro)	FAM72B (A32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515794	NM_001100910.2(FAM72B):c.277C>T (p.Leu93Phe)	FAM72B (L93F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305695	NM_001100910.2(FAM72B):c.136G>A (p.Asp46Asn)	FAM72B (D46N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286374	NM_001100910.2(FAM72B):c.368T>C (p.Leu123Pro)	FAM72B (L123P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256012	NM_001100910.2(FAM72B):c.85G>A (p.Gly29Arg)	FAM72B (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239246	NM_001100910.2(FAM72B):c.275G>A (p.Cys92Tyr)	FAM72B (C92Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204568	NM_001100910.2(FAM72B):c.300C>A (p.His100Gln)	FAM72B (H100Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441874	GRCh37/hg19 1p12-11.2(chr1:120468424-121343783)x3	FAM72B, NOTCH2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394606	GRCh37/hg19 1p11.2(chr1:120839329-120935334)x3	FAM72B	Copy number gain	See cases	GLikely benign
Select item 394161	GRCh37/hg19 1p11.2(chr1:120854455-120935334)x1	FAM72B	Copy number loss	See cases	GBenign
Select item 394076	GRCh37/hg19 1p11.2(chr1:120760288-120935334)x3	FAM72B	Copy number gain	See cases	GLikely benign
Select item 393985	GRCh37/hg19 1p12-11.2(chr1:120556740-120839329)x3	FAM72B, NOTCH2	Copy number gain	See cases	GLikely benign
Select item 152672	GRCh38/hg38 1p11.2(chr1:121102046-121255545)x3	FAM72B, LOC112577489 +1 more	Copy number gain	See cases	GBenign
Select item 145983	GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +41 more	Copy number gain	See cases	GPathogenic
Select item 58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +41 more	Copy number gain	See cases	GPathogenic
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	ACP6, ANKRD34A +212 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 24