UGDH[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	KLB, UGDH +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77