HAP1[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2217961	NM_177977.3(HAP1):c.1850C>T (p.Ser617Leu)	HAP1 (S600L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287515	NM_177977.3(HAP1):c.1847C>A (p.Ser616Ter)	HAP1 (S591* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2637041	NM_177977.3(HAP1):c.1812_1813dup (p.Ala605fs)	HAP1 (A580fs +2 more)	Duplication (frameshift variant +1 more)	HAP1-related disorder	GUncertain significance
Select item 781300	NM_177977.3(HAP1):c.1810G>A (p.Gly604Arg)	HAP1 (G587R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3104205	NM_177977.3(HAP1):c.1781A>C (p.Lys594Thr)	HAP1 (K614T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104204	NM_177977.3(HAP1):c.1766G>T (p.Arg589Leu)	HAP1 (R572L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104203	NM_177977.3(HAP1):c.1765C>T (p.Arg589Trp)	HAP1 (R564W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486932	NM_177977.3(HAP1):c.1708C>G (p.Leu570Val)	HAP1 (L570V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104202	NM_177977.3(HAP1):c.1661A>C (p.Asn554Thr)	HAP1 (N529T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037846	NM_177977.3(HAP1):c.1563G>A (p.Pro521=)	HAP1	Single nucleotide variant (synonymous variant +1 more)	HAP1-related disorder	GBenign
Select item 3104200	NM_177977.3(HAP1):c.1562C>T (p.Pro521Leu)	HAP1 (P496L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104198	NM_177977.3(HAP1):c.1525G>A (p.Val509Met)	HAP1 (V492M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037352	NM_177977.3(HAP1):c.1514C>T (p.Ala505Val)	HAP1 (A480V +4 more)	Single nucleotide variant (missense variant +1 more)	HAP1-related disorder	GBenign
Select item 3038125	NM_177977.3(HAP1):c.1509G>A (p.Thr503=)	HAP1	Single nucleotide variant (synonymous variant +1 more)	HAP1-related disorder	GLikely benign
Select item 2393794	NM_177977.3(HAP1):c.1493G>A (p.Arg498Gln)	HAP1 (R473Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771767	NM_177977.3(HAP1):c.1486A>G (p.Ile496Val)	HAP1 (I479V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3104196	NM_177977.3(HAP1):c.1444C>T (p.Arg482Trp)	HAP1 (R465W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543918	NM_177977.3(HAP1):c.1433G>A (p.Arg478Gln)	HAP1 (R478Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104195	NM_177977.3(HAP1):c.1363G>A (p.Glu455Lys)	HAP1 (E438K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048462	NM_177977.3(HAP1):c.1323G>A (p.Thr441=)	HAP1	Single nucleotide variant (synonymous variant)	HAP1-related disorder	GLikely benign
Select item 1242257	NM_177977.3(HAP1):c.1322C>T (p.Thr441Met)	HAP1 (T416M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043866	NM_177977.3(HAP1):c.1302G>T (p.Thr434=)	HAP1	Single nucleotide variant (synonymous variant)	HAP1-related disorder	GLikely benign
Select item 3104194	NM_177977.3(HAP1):c.1262A>G (p.Gln421Arg)	HAP1 (Q421R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218296	NM_177977.3(HAP1):c.1256A>G (p.Gln419Arg)	HAP1 (Q419R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467316	NM_177977.3(HAP1):c.1241C>T (p.Ser414Leu)	HAP1 (S414L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059732	NM_177977.3(HAP1):c.1224G>T (p.Leu408Phe)	HAP1 (L408F +1 more)	Single nucleotide variant (missense variant +1 more)	HAP1-related disorder	GBenign
Select item 3043113	NM_177977.3(HAP1):c.1201-4C>T	HAP1	Single nucleotide variant (synonymous variant +1 more)	HAP1-related disorder	GLikely benign
Select item 3042532	NM_177977.3(HAP1):c.1201-7C>T	HAP1	Single nucleotide variant (synonymous variant +1 more)	HAP1-related disorder	GLikely benign
Select item 2510741	NM_177977.3(HAP1):c.1195C>T (p.Arg399Trp)	HAP1 (R399W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104193	NM_177977.3(HAP1):c.1189C>T (p.Arg397Cys)	HAP1 (R405C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214749	NM_177977.3(HAP1):c.1168C>G (p.Gln390Glu)	HAP1 (Q390E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244014	NM_177977.3(HAP1):c.1109T>C (p.Leu370Pro)	HAP1 (L370P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787453	NM_177977.3(HAP1):c.1106T>C (p.Val369Ala)	HAP1 (V369A +1 more)	Single nucleotide variant (missense variant)	HAP1-related disorder +1 more	GBenign
Select item 2589237	NM_177977.3(HAP1):c.1075G>A (p.Ala359Thr)	HAP1 (A367T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104192	NM_177977.3(HAP1):c.1051G>C (p.Glu351Gln)	HAP1 (E351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788808	NM_177977.3(HAP1):c.1044C>T (p.Leu348=)	HAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3054149	NM_177977.3(HAP1):c.1015G>A (p.Asp339Asn)	HAP1 (D339N +1 more)	Single nucleotide variant (missense variant)	HAP1-related disorder	GLikely benign
Select item 2264430	NM_177977.3(HAP1):c.907G>A (p.Glu303Lys)	HAP1 (E303K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281606	NM_177977.3(HAP1):c.881G>C (p.Cys294Ser)	HAP1 (C294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277365	NM_177977.3(HAP1):c.848A>C (p.Glu283Ala)	HAP1 (E283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455600	NM_177977.3(HAP1):c.823G>A (p.Ala275Thr)	HAP1 (A275T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532855	NM_177977.3(HAP1):c.793G>A (p.Asp265Asn)	HAP1 (D265N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104210	NM_177977.3(HAP1):c.746G>C (p.Arg249Pro)	HAP1 (R257P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616366	NM_177977.3(HAP1):c.709G>A (p.Glu237Lys)	HAP1 (E245K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321492	NM_177977.3(HAP1):c.640C>A (p.Leu214Met)	HAP1 (L222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386683	NM_177977.3(HAP1):c.625C>T (p.Arg209Cys)	HAP1 (R209C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038606	NM_177977.3(HAP1):c.560C>A (p.Pro187His)	HAP1 (P187H +1 more)	Single nucleotide variant (missense variant)	HAP1-related disorder	GLikely benign
Select item 2208574	NM_177977.3(HAP1):c.554T>A (p.Leu185His)	HAP1 (L193H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038524	NM_177977.3(HAP1):c.550-3dup	HAP1	Duplication (intron variant)	HAP1-related disorder	GLikely benign
Select item 3104209	NM_177977.3(HAP1):c.535T>C (p.Tyr179His)	HAP1 (Y179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618770	NM_177977.3(HAP1):c.500A>G (p.Lys167Arg)	HAP1 (K167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281583	NM_177977.3(HAP1):c.488C>T (p.Pro163Leu)	HAP1 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042666	NM_177977.3(HAP1):c.470-7C>G	HAP1	Single nucleotide variant (intron variant)	HAP1-related disorder	GLikely benign
Select item 3104208	NM_177977.3(HAP1):c.446C>T (p.Ala149Val)	HAP1 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289494	NM_177977.3(HAP1):c.440G>A (p.Arg147His)	HAP1 (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297276	NM_177977.3(HAP1):c.380G>A (p.Gly127Asp)	HAP1 (G127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539114	NM_177977.3(HAP1):c.377C>T (p.Ala126Val)	HAP1 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038751	NM_177977.3(HAP1):c.346C>T (p.Arg116Trp)	HAP1 (R116W)	Single nucleotide variant (missense variant)	HAP1-related disorder	GLikely benign
Select item 3104207	NM_177977.3(HAP1):c.344C>T (p.Ser115Phe)	HAP1 (S115F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049924	NM_177977.3(HAP1):c.311G>A (p.Trp104Ter)	HAP1 (W104*)	Single nucleotide variant (nonsense)	HAP1-related disorder	GBenign
Select item 2326077	NM_177977.3(HAP1):c.289C>G (p.Pro97Ala)	HAP1 (P97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386328	NM_177977.3(HAP1):c.275A>T (p.Asp92Val)	HAP1 (D92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248010	NM_177977.3(HAP1):c.221C>T (p.Ala74Val)	HAP1 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730350	NM_177977.3(HAP1):c.196A>G (p.Thr66Ala)	HAP1 (T66A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297176	NM_177977.3(HAP1):c.178T>C (p.Phe60Leu)	HAP1 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369734	NM_177977.3(HAP1):c.164C>T (p.Thr55Ile)	HAP1 (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394327	NM_177977.3(HAP1):c.161C>G (p.Ala54Gly)	HAP1 (A54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104199	NM_177977.3(HAP1):c.155C>G (p.Ser52Cys)	HAP1 (S52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620926	NM_177977.3(HAP1):c.110C>T (p.Pro37Leu)	HAP1 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777178	NM_177977.3(HAP1):c.74G>A (p.Cys25Tyr)	HAP1 (C25Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3043171	NM_177977.3(HAP1):c.63A>G (p.Ala21=)	HAP1	Single nucleotide variant (synonymous variant)	HAP1-related disorder	GLikely benign
Select item 2380730	NM_177977.3(HAP1):c.29G>T (p.Cys10Phe)	HAP1 (C10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104206	NM_177977.3(HAP1):c.26G>A (p.Cys9Tyr)	HAP1 (C9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783782	NM_177977.3(HAP1):c.22C>T (p.Arg8Trp)	HAP1 (R8W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104197	NM_177977.3(HAP1):c.14G>T (p.Arg5Met)	HAP1 (R5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104211	NM_177977.3(HAP1):c.8C>T (p.Pro3Leu)	HAP1 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 82