CHAC2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 2376770	NM_001008708.4(CHAC2):c.6G>C (p.Trp2Cys)	ASB3, CHAC2 +2 more (W2C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220868	NM_001008708.4(CHAC2):c.19G>C (p.Gly7Arg)	ASB3, CHAC2 +2 more (G7R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143988	NM_001008708.4(CHAC2):c.38T>C (p.Val13Ala)	ASB3, CHAC2 +2 more (V13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623190	NM_001008708.4(CHAC2):c.61C>G (p.Leu21Val)	ASB3, CHAC2 +2 more (L21V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143991	NM_001008708.4(CHAC2):c.77C>T (p.Thr26Ile)	ASB3, CHAC2 +2 more (T26I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267051	NM_001008708.4(CHAC2):c.97T>C (p.Trp33Arg)	ASB3, CHAC2 +2 more (W33R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143983	NM_001008708.4(CHAC2):c.104G>A (p.Gly35Asp)	ASB3, CHAC2 +2 more (G35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143984	NM_001008708.4(CHAC2):c.106A>C (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143985	NM_001008708.4(CHAC2):c.107G>C (p.Ser36Thr)	ASB3, CHAC2 +2 more (S36T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461022	NM_001008708.4(CHAC2):c.108C>G (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314202	NM_001008708.4(CHAC2):c.190G>A (p.Ala64Thr)	ASB3, CHAC2 +1 more (A64T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143986	NM_001008708.4(CHAC2):c.212A>G (p.Lys71Arg)	ASB3, CHAC2 +1 more (K71R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519185	NM_001008708.4(CHAC2):c.223G>A (p.Val75Ile)	ASB3, CHAC2 +1 more (V75I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330033	NM_001008708.4(CHAC2):c.311T>G (p.Phe104Cys)	ASB3, CHAC2 +1 more (F104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143987	NM_001008708.4(CHAC2):c.347C>G (p.Pro116Arg)	ASB3, CHAC2 +1 more (P116R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558986	NM_001008708.4(CHAC2):c.380T>C (p.Ile127Thr)	ASB3, CHAC2 +1 more (I71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267370	NM_001008708.4(CHAC2):c.389A>G (p.Gln130Arg)	ASB3, CHAC2 +1 more (Q74R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233646	NM_001008708.4(CHAC2):c.437T>C (p.Phe146Ser)	ASB3, CHAC2 +1 more (F146S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284178	NM_001008708.4(CHAC2):c.446C>G (p.Ala149Gly)	ASB3, CHAC2 +1 more (A149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312486	NM_001008708.4(CHAC2):c.454A>G (p.Ile152Val)	ASB3, CHAC2 +1 more (I96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387664	NM_001008708.4(CHAC2):c.482A>T (p.Asp161Val)	ASB3, CHAC2 +1 more (D105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143990	NM_001008708.4(CHAC2):c.538A>C (p.Asn180His)	ASB3, CHAC2 +1 more (N124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266768	NM_001008708.4(CHAC2):c.541C>T (p.Leu181Phe)	ASB3, CHAC2 +1 more (L125F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 221422	GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3	ASB3, ERLEC1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35