ClinVar for Gene (Select 27159) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144353	NM_201653.4(CHIA):c.848C>T (p.Ala283Val)	CHIA (A122V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144351	NM_201653.4(CHIA):c.782T>A (p.Ile261Asn)	CHIA (I153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144350	NM_201653.4(CHIA):c.702C>A (p.Asp234Glu)	CHIA (D73E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144349	NM_201653.4(CHIA):c.382C>T (p.Arg128Cys)	CHIA (R20C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144348	NM_201653.4(CHIA):c.327G>A (p.Met109Ile)	CHIA (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144347	NM_201653.4(CHIA):c.261C>G (p.Asn87Lys)	CHIA (N87K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2607515	NM_201653.4(CHIA):c.152G>A (p.Cys51Tyr)	CHIA (C51Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606593	NM_201653.4(CHIA):c.1072A>G (p.Met358Val)	CHIA (M250V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591671	NM_201653.4(CHIA):c.11T>G (p.Leu4Arg)	CHIA (L4R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2536571	NM_201653.4(CHIA):c.1055A>G (p.Asn352Ser)	CHIA (N191S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525262	NM_201653.4(CHIA):c.1276G>A (p.Gly426Ser)	CHIA (G265S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514265	NM_201653.4(CHIA):c.476T>G (p.Val159Gly)	CHIA (V159G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2402249	NM_201653.4(CHIA):c.757A>T (p.Asn253Tyr)	CHIA (N92Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402242	NM_201653.4(CHIA):c.637G>A (p.Asp213Asn)	CHIA (D105N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380586	NM_201653.4(CHIA):c.5C>T (p.Thr2Ile)	CHIA (T2I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2373775	NM_201653.4(CHIA):c.889G>A (p.Glu297Lys)	CHIA (E189K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317139	NM_201653.4(CHIA):c.805C>T (p.His269Tyr)	CHIA (H108Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284212	NM_201653.4(CHIA):c.346C>T (p.Arg116Cys)	CHIA (R8C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275070	NM_201653.4(CHIA):c.515A>G (p.Gln172Arg)	CHIA (Q64R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265398	NM_201653.4(CHIA):c.790T>G (p.Phe264Val)	CHIA (F103V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264761	NM_201653.4(CHIA):c.104G>A (p.Arg35Gln)	CHIA (R35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230167	NM_201653.4(CHIA):c.1232G>A (p.Ser411Asn)	CHIA (S250N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226135	NM_201653.4(CHIA):c.999G>T (p.Trp333Cys)	CHIA (W172C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209310	NM_201653.4(CHIA):c.1377C>G (p.Asn459Lys)	CHIA (N459K +2 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 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 782080	NM_201653.4(CHIA):c.816C>A (p.Ile272=)	CHIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777931	NM_201653.4(CHIA):c.961_974dup (p.Tyr326fs)	CHIA (Y218fs +2 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 770114	NM_201653.4(CHIA):c.169G>A (p.Ala57Thr)	CHIA (A57T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 769525	NM_201653.4(CHIA):c.103C>T (p.Arg35Trp)	CHIA (R35W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720744	NM_201653.4(CHIA):c.474G>C (p.Leu158=)	CHIA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 711971	NM_201653.4(CHIA):c.1068C>T (p.Gly356=)	CHIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711970	NM_201653.4(CHIA):c.950G>A (p.Gly317Glu)	CHIA (G209E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711969	NM_201653.4(CHIA):c.883G>A (p.Ala295Thr)	CHIA (A295T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711968	NM_201653.4(CHIA):c.753G>A (p.Lys251=)	CHIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
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 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49