ClinVar for Gene (Select 80331) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3006679	NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)	DNAJC5 (R36Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2984239	NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)	DNAJC5 (Q160R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2971304	NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)	DNAJC5 (G196E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2961527	NM_025219.3(DNAJC5):c.494-16T>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2958058	NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2912673	NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)	DNAJC5 (H18Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2887850	NM_025219.3(DNAJC5):c.147C>T (p.Asp49=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2859242	NM_025219.3(DNAJC5):c.578A>G (p.His193Arg)	DNAJC5 (H193R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2829969	NM_025219.3(DNAJC5):c.522G>C (p.Gln174His)	DNAJC5 (Q174H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2816618	NM_025219.3(DNAJC5):c.375G>C (p.Leu125=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2813577	NM_025219.3(DNAJC5):c.285G>T (p.Val95=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2810796	NM_025219.3(DNAJC5):c.303G>A (p.Leu101=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2795745	NM_025219.3(DNAJC5):c.493+17G>C	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2778514	NM_025219.3(DNAJC5):c.500C>T (p.Thr167Ile)	DNAJC5 (T167I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2766377	NM_025219.3(DNAJC5):c.436_437delinsTT (p.Thr146Leu)	DNAJC5 (T146L)	Indel (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2729700	NM_025219.3(DNAJC5):c.494-15G>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2720493	NM_025219.3(DNAJC5):c.537C>T (p.Thr179=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2704340	NM_025219.3(DNAJC5):c.322-4C>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2652562	NM_025219.3(DNAJC5):c.91A>G (p.Ile31Val)	DNAJC5 (I31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652561	NM_025219.3(DNAJC5):c.-140GCC[10]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2444840	NM_025219.3(DNAJC5):c.436A>G (p.Thr146Ala)	DNAJC5 (T146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440942	NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)	DNAJC5 (S161C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 2440941	NM_025219.3(DNAJC5):c.493+1dup	DNAJC5	Duplication (splice donor variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 2426932	NC_000020.10:g.(?_62542275)_(62559715_?)del	DNAJC5	Deletion	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2425821	NC_000020.10:g.(?_62559699)_(62680869_?)dup	DNAJC5, PRPF6 +4 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2421222	NM_025219.3(DNAJC5):c.417G>A (p.Lys139=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2420484	NM_025219.3(DNAJC5):c.493+20C>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2173924	NM_025219.3(DNAJC5):c.57C>T (p.Val19=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2167488	NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile)	DNAJC5 (T185I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2166397	NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2166172	NM_025219.3(DNAJC5):c.261C>G (p.Ala87=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2165949	NM_025219.3(DNAJC5):c.336C>T (p.Phe112=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2159688	NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)	DNAJC5 (S188F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2149955	NM_025219.3(DNAJC5):c.493+8C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2147986	NM_025219.3(DNAJC5):c.538G>A (p.Glu180Lys)	DNAJC5 (E180K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2094642	NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)	DNAJC5 (K24Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2094111	NM_025219.3(DNAJC5):c.400G>A (p.Gly134Arg)	DNAJC5 (G134R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2089864	NM_025219.3(DNAJC5):c.322-17C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2074685	NM_025219.3(DNAJC5):c.558C>T (p.Ala186=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2063200	NM_025219.3(DNAJC5):c.441G>A (p.Glu147=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2055116	NM_025219.3(DNAJC5):c.510G>T (p.Pro170=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2045667	NM_025219.3(DNAJC5):c.493+22del	DNAJC5	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2044576	NM_025219.3(DNAJC5):c.518T>C (p.Ile173Thr)	DNAJC5 (I173T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2037405	NM_025219.3(DNAJC5):c.322-13C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2028597	NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2005528	NM_025219.3(DNAJC5):c.334T>C (p.Phe112Leu)	DNAJC5 (F112L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2004945	NM_025219.3(DNAJC5):c.494-19C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1996827	NM_025219.3(DNAJC5):c.168G>A (p.Lys56=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1977150	NM_025219.3(DNAJC5):c.147C>A (p.Asp49Glu)	DNAJC5 (D49E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1946965	NM_025219.3(DNAJC5):c.321+38_321+63dup	DNAJC5	Duplication (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1878735	NM_025219.3(DNAJC5):c.448G>T (p.Val150Leu)	DNAJC5 (V150L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1794034	NM_025219.3(DNAJC5):c.262G>A (p.Glu88Lys)	DNAJC5 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1792649	NM_025219.3(DNAJC5):c.252C>G (p.Leu84=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1739418	NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)	DNAJC5 (G143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1699578	NM_025219.3(DNAJC5):c.372_398dup (p.Cys133_Gly134insLeuCysCysCysPheAsnCysCysCys)	DNAJC5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1699575	NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)	DNAJC5 (D3G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1664861	NM_025219.3(DNAJC5):c.261C>T (p.Ala87=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1655614	NM_025219.3(DNAJC5):c.493+19G>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1640594	NM_025219.3(DNAJC5):c.60T>C (p.Leu20=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1639791	NM_025219.3(DNAJC5):c.306C>T (p.Ser102=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1636329	NM_025219.3(DNAJC5):c.494-20C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1635597	NM_025219.3(DNAJC5):c.243G>T (p.Ser81=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1630258	NM_025219.3(DNAJC5):c.333C>G (p.Val111=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1628608	NM_025219.3(DNAJC5):c.493+11G>C	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1625498	NM_025219.3(DNAJC5):c.150C>T (p.Asn50=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1624122	NM_025219.3(DNAJC5):c.231C>T (p.Asp77=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1622399	NM_025219.3(DNAJC5):c.453C>T (p.Ser151=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1589762	NM_025219.3(DNAJC5):c.321+38_321+63del	DNAJC5	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1587638	NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1586330	NM_025219.3(DNAJC5):c.321+90_321+141del	DNAJC5	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1586028	NM_025219.3(DNAJC5):c.225C>T (p.Ile75=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1580454	NM_025219.3(DNAJC5):c.493+11G>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1568853	NM_025219.3(DNAJC5):c.322-18_322-16del	DNAJC5	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1562220	NM_025219.3(DNAJC5):c.297C>T (p.Phe99=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1549691	NM_025219.3(DNAJC5):c.174G>A (p.Lys58=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1544336	NM_025219.3(DNAJC5):c.322-15_322-14delinsAC	DNAJC5	Indel (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1543907	NM_025219.3(DNAJC5):c.39G>A (p.Gly13=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1542147	NM_025219.3(DNAJC5):c.192C>T (p.His64=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1533847	NM_025219.3(DNAJC5):c.483T>A (p.Ser161=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1533597	NM_025219.3(DNAJC5):c.243G>A (p.Ser81=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526310	NM_025219.3(DNAJC5):c.1197_1249del	DNAJC5	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1516192	NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu)	DNAJC5 (D29E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1509042	NM_025219.3(DNAJC5):c.593A>G (p.Asn198Ser)	DNAJC5 (N198S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1498539	NM_025219.3(DNAJC5):c.520C>T (p.Gln174Ter)	DNAJC5 (Q174*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1488110	NM_025219.3(DNAJC5):c.108G>C (p.Arg36=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1486057	NM_025219.3(DNAJC5):c.211A>C (p.Thr71Pro)	DNAJC5 (T71P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1469691	NM_025219.3(DNAJC5):c.208G>A (p.Ala70Thr)	DNAJC5 (A70T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1448865	NM_025219.3(DNAJC5):c.322-3C>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1438626	NM_025219.3(DNAJC5):c.322-9T>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1436005	NM_025219.3(DNAJC5):c.555A>G (p.Thr185=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1433552	NM_025219.3(DNAJC5):c.346C>T (p.Leu116Phe)	DNAJC5 (L116F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance

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