7358[geneid] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 1675947	NM_003359.4(UGDH):c.1440G>C (p.Pro480=)	UGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478392	NM_003359.4(UGDH):c.1439C>G (p.Pro480Arg)	UGDH (P413R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186038	NM_003359.4(UGDH):c.1423C>A (p.Pro475Thr)	UGDH (P378T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285619	NM_003359.4(UGDH):c.1423C>T (p.Pro475Ser)	UGDH (P475S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2622305	NM_003359.4(UGDH):c.1421C>T (p.Ala474Val)	UGDH (A474V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235431	NM_003359.4(UGDH):c.1396G>A (p.Val466Met)	UGDH (V466M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 810641	NM_003359.4(UGDH):c.1346A>G (p.His449Arg)	UGDH (H382R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810642	NM_003359.4(UGDH):c.1328G>A (p.Arg443His)	UGDH (R346H +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810643	NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)	UGDH (R375W +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 2265840	NM_003359.4(UGDH):c.1292A>G (p.Lys431Arg)	UGDH (K334R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330806	NM_003359.4(UGDH):c.1270del (p.Asp424fs)	UGDH (D424fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 810644	NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)	UGDH (A313S +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 3356680	NM_003359.4(UGDH):c.1202C>T (p.Pro401Leu)	UGDH (P304L +2 more)	Single nucleotide variant (missense variant)	UGDH-related disorder	GUncertain significance
Select item 810645	NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)	UGDH (R393W +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GLikely pathogenic
Select item 3367062	NM_003359.4(UGDH):c.1136A>T (p.Asp379Val)	UGDH (D282V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 810646	NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)	UGDH (Y367C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 2654730	NM_003359.4(UGDH):c.1083T>C (p.Gly361=)	UGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810647	NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)	UGDH (Y259* +2 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GLikely pathogenic
Select item 1711589	NM_003359.4(UGDH):c.1038-8dup	UGDH	Duplication (intron variant)	not provided	GLikely benign
Select item 592087	NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	UGDH (R317Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GPathogenic/Likely pathogenic
Select item 1804342	NM_003359.4(UGDH):c.949C>T (p.Arg317Trp)	UGDH (R220W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233379	NM_003359.4(UGDH):c.927C>G (p.Tyr309Ter)	UGDH (Y212* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 2654731	NM_003359.4(UGDH):c.921T>C (p.Asn307=)	UGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810648	NM_003359.4(UGDH):c.916A>G (p.Met306Val)	UGDH (M306V +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810649	NM_003359.4(UGDH):c.907G>A (p.Val303Ile)	UGDH (V206I +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810650	NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)	UGDH (G271R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 1285104	NM_003359.4(UGDH):c.792G>A (p.Lys264=)	UGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810651	NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)	UGDH (I158T +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 1319156	NM_003359.4(UGDH):c.734G>C (p.Gly245Ala)	UGDH (G148A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430826	NM_003359.4(UGDH):c.709A>G (p.Ile237Val)	UGDH (I140V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810652	NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)	UGDH (E217D +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 2607981	NM_003359.4(UGDH):c.569G>T (p.Arg190Ile)	UGDH (R123I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503352	NM_003359.4(UGDH):c.528C>G (p.Asp176Glu)	UGDH (D109E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810653	NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)	UGDH (P175A +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810654	NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)	UGDH (Q155* +1 more)	Single nucleotide variant (nonsense +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 1686357	NM_003359.4(UGDH):c.421C>T (p.Arg141Cys)	UGDH (R141C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 810655	NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)	UGDH (I125T +1 more)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 3186039	NM_003359.4(UGDH):c.344G>A (p.Arg115His)	UGDH (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1879603	NM_003359.4(UGDH):c.343C>T (p.Arg115Cys)	UGDH (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699071	NM_003359.4(UGDH):c.311C>T (p.Ala104Val)	UGDH (A104V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 2504423	NM_003359.4(UGDH):c.305G>A (p.Arg102Gln)	UGDH (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690415	NM_003359.4(UGDH):c.304C>T (p.Arg102Trp)	UGDH (R102W +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 2504422	NM_003359.4(UGDH):c.265-6C>G	UGDH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 810656	NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)	UGDH (A82T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810657	NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)	UGDH (S72A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 2654732	NM_003359.4(UGDH):c.213T>C (p.Phe71=)	UGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810658	NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	UGDH (R65*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 84	GPathogenic
Select item 767952	NM_003359.4(UGDH):c.163-9_163-3del	UGDH	Microsatellite (intron variant)	not provided	GBenign
Select item 1335558	NM_003359.4(UGDH):c.132G>T (p.Ala44=)	UGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810659	NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	UGDH (A44V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GLikely pathogenic
Select item 810660	NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)	UGDH (I42T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 2672989	NM_003359.4(UGDH):c.105T>G (p.Val35=)	UGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810661	NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)	UGDH (A24T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810662	NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	UGDH (Y14C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +2 more	GConflicting classifications of pathogenicity
Select item 3348038	NM_003359.4(UGDH):c.21C>T (p.Ile7=)	UGDH	Single nucleotide variant (synonymous variant +1 more)	UGDH-related disorder	GLikely benign
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2498965	GRCh37/hg19 4p14(chr4:39245868-39700010)x3	KLB, LIAS +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	APBB2, CHRNA9 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1010437	NC_000004.11:g.(?_39459814)_(39528725_?)dup	LIAS, RPL9 +1 more	Duplication	not provided	GUncertain significance
Select item 980663	GRCh37/hg19 4p14(chr4:39116340-40293329)x3	WDR19, UBE2K +10 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 688875	GRCh37/hg19 4p14(chr4:39433497-39565064)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 685006	GRCh37/hg19 4p14(chr4:39423077-39573377)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 77