ClinVar for Gene (Select 100128071) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277410	NM_001167676.2(FAM229A):c.89C>A (p.Ala30Asp)	FAM229A, LOC129930041 (A30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092364	NM_001167676.2(FAM229A):c.34G>A (p.Ala12Thr)	FAM229A, LOC129930041 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092363	NM_001167676.2(FAM229A):c.22G>C (p.Gly8Arg)	FAM229A (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638609	NM_001167676.2(FAM229A):c.63A>C (p.Gly21=)	FAM229A, LOC129930041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509912	NM_001167676.2(FAM229A):c.22G>A (p.Gly8Arg)	FAM229A (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411059	NM_001167676.2(FAM229A):c.156G>C (p.Met52Ile)	FAM229A, LOC129930041 (M52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392696	NM_001167676.2(FAM229A):c.8C>T (p.Pro3Leu)	FAM229A (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379318	NM_001167676.2(FAM229A):c.334A>G (p.Ile112Val)	FAM229A (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354369	NM_001167676.2(FAM229A):c.247C>T (p.Pro83Ser)	FAM229A (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347520	NM_001167676.2(FAM229A):c.227C>T (p.Ala76Val)	FAM229A, LOC129930041 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272962	NM_001167676.2(FAM229A):c.139C>T (p.Pro47Ser)	FAM229A, LOC129930041 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210998	NM_001167676.2(FAM229A):c.223G>A (p.Ala75Thr)	FAM229A, LOC129930041 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	GUncertain significance
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23