6302[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 1684828	NM_002252.5(KCNS3):c.61G>A (p.Val21Met)	KCNS3 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113500	NM_002252.5(KCNS3):c.359G>A (p.Arg120His)	KCNS3 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055142	NM_002252.5(KCNS3):c.362A>G (p.Tyr121Cys)	KCNS3 (Y121C)	Single nucleotide variant (missense variant)	KCNS3-related disorder	GLikely benign
Select item 3113501	NM_002252.5(KCNS3):c.380A>G (p.Glu127Gly)	KCNS3 (E127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612491	NM_002252.5(KCNS3):c.394G>C (p.Asp132His)	KCNS3 (D132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113502	NM_002252.5(KCNS3):c.421A>C (p.Ser141Arg)	KCNS3 (S141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471125	NM_002252.5(KCNS3):c.431C>G (p.Ser144Cys)	KCNS3 (S144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224195	NM_002252.5(KCNS3):c.446C>T (p.Ser149Leu)	KCNS3 (S149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487267	NM_002252.5(KCNS3):c.550G>A (p.Ala184Thr)	KCNS3 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113503	NM_002252.5(KCNS3):c.598G>T (p.Val200Leu)	KCNS3 (V200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996635	NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)	KCNS3 (A201T)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2531321	NM_002252.5(KCNS3):c.604A>G (p.Met202Val)	KCNS3 (M202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309242	NM_002252.5(KCNS3):c.610G>A (p.Val204Ile)	KCNS3 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400791	NM_002252.5(KCNS3):c.623C>T (p.Ser208Leu)	KCNS3 (S208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271203	NM_002252.5(KCNS3):c.880C>T (p.Leu294Phe)	KCNS3 (L294F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558263	NM_002252.5(KCNS3):c.932G>A (p.Arg311Gln)	KCNS3 (R311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520894	NM_002252.5(KCNS3):c.1033G>A (p.Val345Met)	KCNS3 (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270820	NM_002252.5(KCNS3):c.1067G>A (p.Ser356Asn)	KCNS3 (S356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597957	NM_002252.5(KCNS3):c.1108A>G (p.Thr370Ala)	KCNS3 (T370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370700	NM_002252.5(KCNS3):c.1135G>T (p.Val379Phe)	KCNS3 (V379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789964	NM_002252.5(KCNS3):c.1145C>T (p.Ala382Val)	KCNS3 (A382V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2519768	NM_002252.5(KCNS3):c.1159G>A (p.Ala387Thr)	KCNS3 (A387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207888	NM_002252.5(KCNS3):c.1306C>G (p.Pro436Ala)	KCNS3 (P436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209639	NM_002252.5(KCNS3):c.1339C>T (p.Arg447Trp)	KCNS3 (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228617	NM_002252.5(KCNS3):c.1340G>A (p.Arg447Gln)	KCNS3 (R447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341211	NM_002252.5(KCNS3):c.1344G>A (p.Met448Ile)	KCNS3 (M448I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516795	NM_002252.5(KCNS3):c.1406A>T (p.Asp469Val)	KCNS3 (D469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276793	NM_002252.5(KCNS3):c.1426A>G (p.Asn476Asp)	KCNS3 (N476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113499	NM_002252.5(KCNS3):c.1435A>G (p.Ile479Val)	KCNS3 (I479V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490147	NM_002252.5(KCNS3):c.1451C>A (p.Ser484Tyr)	KCNS3 (S484Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1807984	GRCh37/hg19 2p24.2(chr2:18077007-18139878)x1	KCNS3	Copy number loss	not provided	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 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 979980	GRCh37/hg19 2p24.2(chr2:17846161-18720906)x3	GEN1, KCNS3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 562638	GRCh37/hg19 2p24.2(chr2:16926193-18225507)x3	MSGN1, KCNS3 +4 more	Copy number gain	not provided	GLikely benign
Select item 446356	GRCh37/hg19 2p24.2(chr2:17814030-18851257)x3	GEN1, KCNS3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
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 395528	GRCh37/hg19 2p24.2(chr2:18099135-18315945)x3	KCNS3	Copy number gain	See cases	GLikely benign

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Items: 56