ClinVar for Gene (Select 653820) - ClinVar

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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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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 +42 more	Copy number gain	See cases	GPathogenic
Select item 58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +42 more	Copy number gain	See cases	GPathogenic
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24