HIPK1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	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
Select item 2507837	NM_198268.3(HIPK1):c.26C>T (p.Ser9Leu)	HIPK1 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105936	NM_198268.3(HIPK1):c.38T>C (p.Val13Ala)	HIPK1 (V13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529454	NM_198268.3(HIPK1):c.62C>T (p.Ala21Val)	HIPK1 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291991	NM_198268.3(HIPK1):c.113G>T (p.Ser38Ile)	HIPK1 (S38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623457	NM_198268.3(HIPK1):c.119A>G (p.Asp40Gly)	HIPK1 (D40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403703	NM_198268.3(HIPK1):c.305G>A (p.Ser102Asn)	HIPK1 (S102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479390	NM_198268.3(HIPK1):c.342G>C (p.Leu114Phe)	HIPK1 (L114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105937	NM_198268.3(HIPK1):c.500G>A (p.Ser167Asn)	HIPK1 (S167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611365	NM_198268.3(HIPK1):c.540T>G (p.His180Gln)	HIPK1 (H180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480670	NM_198268.3(HIPK1):c.848A>G (p.Lys283Arg)	HIPK1 (K283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609173	NM_198268.3(HIPK1):c.1045T>C (p.Cys349Arg)	HIPK1 (C349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246754	NM_198268.3(HIPK1):c.1051A>G (p.Thr351Ala)	HIPK1 (T351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281608	NM_198268.3(HIPK1):c.1125G>A (p.Met375Ile)	HIPK1 (M375I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284322	NM_198268.3(HIPK1):c.1370G>A (p.Arg457Gln)	HIPK1 (R457Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105912	NM_198268.3(HIPK1):c.1541A>G (p.Asn514Ser)	HIPK1 (N120S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270321	NM_198268.3(HIPK1):c.1583A>G (p.His528Arg)	HIPK1 (H134R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105913	NM_198268.3(HIPK1):c.1795A>C (p.Thr599Pro)	HIPK1 (T599P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105914	NM_198268.3(HIPK1):c.1802C>G (p.Ser601Cys)	HIPK1 (S207C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484754	NM_198268.3(HIPK1):c.1894G>C (p.Val632Leu)	HIPK1 (V632L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494710	NM_198268.3(HIPK1):c.1928C>G (p.Thr643Ser)	HIPK1 (T643S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105915	NM_198268.3(HIPK1):c.1973C>T (p.Ala658Val)	HIPK1 (A284V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105916	NM_198268.3(HIPK1):c.1999A>G (p.Thr667Ala)	HIPK1 (T273A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399913	NM_198268.3(HIPK1):c.2033A>G (p.Asn678Ser)	HIPK1 (N678S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522546	NM_198268.3(HIPK1):c.2190C>G (p.Ser730Arg)	HIPK1 (S336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284324	NM_198268.3(HIPK1):c.2215G>A (p.Val739Ile)	HIPK1 (V345I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555709	NM_198268.3(HIPK1):c.2332G>A (p.Ala778Thr)	HIPK1 (A404T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390436	NM_198268.3(HIPK1):c.2536A>C (p.Asn846His)	HIPK1 (N845H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532548	NM_198268.3(HIPK1):c.2584C>G (p.Pro862Ala)	HIPK1 (P468A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105917	NM_198268.3(HIPK1):c.2645C>T (p.Ser882Phe)	HIPK1 (S508F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324258	NM_198268.3(HIPK1):c.2791T>A (p.Ser931Thr)	HIPK1 (S557T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105918	NM_198268.3(HIPK1):c.2885G>A (p.Arg962Gln)	HIPK1 (R588Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105919	NM_198268.3(HIPK1):c.2947C>T (p.Arg983Cys)	HIPK1 (R609C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355263	NM_198268.3(HIPK1):c.3043G>A (p.Ala1015Thr)	HIPK1 (A1015T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384800	NM_198268.3(HIPK1):c.3095G>A (p.Arg1032Gln)	HIPK1 (R638Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105921	NM_198268.3(HIPK1):c.3103C>T (p.Arg1035Cys)	HIPK1 (R661C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373352	NM_198268.3(HIPK1):c.3104G>A (p.Arg1035His)	HIPK1 (R641H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105922	NM_198268.3(HIPK1):c.3106G>A (p.Gly1036Arg)	HIPK1 (G1035R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468455	NM_198268.3(HIPK1):c.3134A>G (p.Asn1045Ser)	HIPK1 (N651S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105923	NM_198268.3(HIPK1):c.3161C>T (p.Ala1054Val)	HIPK1 (A1053V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284321	NM_198268.3(HIPK1):c.3173C>T (p.Ser1058Leu)	HIPK1 (S1024L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402825	NM_198268.3(HIPK1):c.3202C>T (p.Arg1068Cys)	HIPK1 (R1067C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542423	NM_198268.3(HIPK1):c.3223G>A (p.Ala1075Thr)	HIPK1 (A1074T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105924	NM_198268.3(HIPK1):c.3232T>C (p.Ser1078Pro)	HIPK1 (S1078P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105925	NM_198268.3(HIPK1):c.3247A>G (p.Thr1083Ala)	HIPK1 (T1083A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105926	NM_198268.3(HIPK1):c.3299C>T (p.Pro1100Leu)	HIPK1 (P1099L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105927	NM_198268.3(HIPK1):c.3373T>C (p.Ser1125Pro)	HIPK1 (S1091P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105928	NM_198268.3(HIPK1):c.3379A>G (p.Ser1127Gly)	HIPK1 (S1127G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284323	NM_198268.3(HIPK1):c.3392A>G (p.His1131Arg)	HIPK1 (H1097R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105929	NM_198268.3(HIPK1):c.3421C>T (p.His1141Tyr)	HIPK1 (H1140Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284224	NM_198268.3(HIPK1):c.3499T>A (p.Ser1167Thr)	HIPK1 (S1167T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105930	NM_198268.3(HIPK1):c.3506G>C (p.Ser1169Thr)	HIPK1 (S795T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105931	NM_198268.3(HIPK1):c.3554T>C (p.Ile1185Thr)	HIPK1 (I791T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105932	NM_198268.3(HIPK1):c.3557G>T (p.Gly1186Val)	HIPK1 (G1152V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105933	NM_198268.3(HIPK1):c.3566G>A (p.Arg1189Gln)	HIPK1 (R1155Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105935	NM_198268.3(HIPK1):c.3574A>G (p.Thr1192Ala)	HIPK1 (T1191A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	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 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	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 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	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)	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 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 70