12636[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 57719	GRCh38/hg38 1p36.23(chr1:7330680-7886654)x3	CAMTA1, CAMTA1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2355047	NM_006786.4(UTS2):c.316A>G (p.Ile106Val)	UTS2 (I106V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362259	NM_006786.4(UTS2):c.283C>A (p.Pro95Thr)	UTS2 (P95T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588114	NM_006786.4(UTS2):c.272C>T (p.Ser91Phe)	UTS2 (S106F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787203	NM_006786.4(UTS2):c.270C>A (p.Phe90Leu)	UTS2 (F105L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3331798	NM_006786.4(UTS2):c.220A>G (p.Ser74Gly)	UTS2 (S89G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280993	NM_006786.4(UTS2):c.208A>G (p.Lys70Glu)	UTS2 (K70E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240136	NM_006786.4(UTS2):c.151T>G (p.Ser51Ala)	UTS2 (S66A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331799	NM_006786.4(UTS2):c.119C>T (p.Ala40Val)	UTS2 (A55V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709174	NM_006786.4(UTS2):c.89C>T (p.Ser30Phe)	UTS2 (S30F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638145	NM_006786.4(UTS2):c.72T>C (p.Leu24=)	UTS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681639	NM_006786.4(UTS2):c.49C>T (p.Pro17Ser)	UTS2 (P17S)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3331800	NM_021995.2(UTS2):c.112C>T (p.His38Tyr)	UTS2 (H38Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607868	NM_021995.2(UTS2):c.92A>G (p.Tyr31Cys)	UTS2 (Y31C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459495	NM_021995.2(UTS2):c.86A>C (p.Asn29Thr)	UTS2 (N29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544657	NM_021995.2(UTS2):c.37A>G (p.Thr13Ala)	UTS2 (T13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345674	NM_021995.2(UTS2):c.34G>A (p.Val12Ile)	UTS2 (V12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2425758	NC_000001.10:g.(?_7700440)_(8601397_?)dup	CAMTA1, ERRFI1 +7 more	Duplication	not provided	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808723	GRCh37/hg19 1p36.23(chr1:7526232-8290521)x1	CAMTA1, ERRFI1 +5 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 814050	GRCh37/hg19 1p36.23(chr1:7840942-8007922)x1	VAMP3, TNFRSF9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 565070	GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1	SLC2A5, PER3 +16 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	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 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65