ClinVar for Gene (Select 399) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3058522	NM_004310.5(RHOH):c.-1G>A	RHOH	Single nucleotide variant (5 prime UTR variant)	RHOH-related disorder	GLikely benign
Select item 2984601	NM_004310.5(RHOH):c.174C>T (p.Asp58=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2973877	NM_004310.5(RHOH):c.192C>T (p.Ala64=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2870791	NM_004310.5(RHOH):c.515A>G (p.Asn172Ser)	RHOH (N172S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 2835842	NM_004310.5(RHOH):c.336G>A (p.Leu112=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2816124	NM_004310.5(RHOH):c.415C>G (p.Leu139Val)	RHOH (L139V)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 2800064	NM_004310.5(RHOH):c.99C>T (p.Tyr33=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2729606	NM_004310.5(RHOH):c.114C>T (p.Tyr38=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2539525	NM_004310.5(RHOH):c.437A>C (p.Lys146Thr)	RHOH (K146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427976	NM_004310.5(RHOH):c.78C>T (p.Ser26=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2340289	NM_004310.5(RHOH):c.139A>C (p.Met47Leu)	RHOH (M47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191555	NM_004310.5(RHOH):c.395A>G (p.Asn132Ser)	RHOH (N132S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 2146354	NM_004310.5(RHOH):c.18G>A (p.Lys6=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2130918	NM_004310.5(RHOH):c.126G>A (p.Gly42=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2108731	NM_004310.5(RHOH):c.339G>A (p.Val113=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2098100	NM_004310.5(RHOH):c.503G>A (p.Arg168Gln)	RHOH (R168Q)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 2081101	NM_004310.5(RHOH):c.558T>C (p.Asn186=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2038021	NM_004310.5(RHOH):c.180C>T (p.Ala60=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 2029246	NM_004310.5(RHOH):c.399C>T (p.Ala133=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1999983	NM_004310.5(RHOH):c.190G>T (p.Ala64Ser)	RHOH (A64S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1994043	NM_004310.5(RHOH):c.101A>G (p.Lys34Arg)	RHOH (K34R)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1965399	NM_004310.5(RHOH):c.252T>G (p.Ser84=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1959739	NM_004310.5(RHOH):c.48G>C (p.Gly16=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1957555	NM_004310.5(RHOH):c.126G>C (p.Gly42=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1928465	NM_004310.5(RHOH):c.469C>A (p.Arg157=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1914602	NM_004310.5(RHOH):c.401T>C (p.Met134Thr)	RHOH (M134T)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1719148	NM_004310.5(RHOH):c.310A>G (p.Ser104Gly)	RHOH (S104G)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis +1 more	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 1627416	NM_004310.5(RHOH):c.207G>A (p.Arg69=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1626193	NM_004310.5(RHOH):c.415C>T (p.Leu139=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1615824	NM_004310.5(RHOH):c.546C>T (p.Leu182=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1615043	NM_004310.5(RHOH):c.445C>T (p.Leu149=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1593584	NM_004310.5(RHOH):c.27G>A (p.Leu9=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1578244	NM_004310.5(RHOH):c.105C>T (p.Pro35=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1517425	NM_004310.5(RHOH):c.29T>C (p.Val10Ala)	RHOH (V10A)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1494921	NM_004310.5(RHOH):c.331G>C (p.Val111Leu)	RHOH (V111L)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1490780	NM_004310.5(RHOH):c.188A>T (p.Asp63Val)	RHOH (D63V)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1482421	NM_004310.5(RHOH):c.422A>G (p.Gln141Arg)	RHOH (Q141R)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1445989	NM_004310.5(RHOH):c.263A>G (p.His88Arg)	RHOH (H88R)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1437482	NM_004310.5(RHOH):c.436A>C (p.Lys146Gln)	RHOH (K146Q)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	RHOH, TLR6 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1406547	NM_004310.5(RHOH):c.329del (p.Pro110fs)	RHOH (P110fs)	Deletion (frameshift variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1401164	NM_004310.5(RHOH):c.89C>T (p.Pro30Leu)	RHOH (P30L)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1380928	NM_004310.5(RHOH):c.226G>C (p.Ala76Pro)	RHOH (A76P)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1365400	NM_004310.5(RHOH):c.538A>T (p.Arg180Trp)	RHOH (R180W)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1356356	NM_004310.5(RHOH):c.470G>A (p.Arg157Gln)	RHOH (R157Q)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1157702	NM_004310.5(RHOH):c.189C>T (p.Asp63=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1146438	NM_004310.5(RHOH):c.231C>T (p.Asp77=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1143633	NM_004310.5(RHOH):c.219C>T (p.Tyr73=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1128870	NM_004310.5(RHOH):c.408G>A (p.Gly136=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1123575	NM_004310.5(RHOH):c.498C>T (p.Ala166=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1122817	NM_004310.5(RHOH):c.570C>T (p.Ile190=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1116960	NM_004310.5(RHOH):c.165C>T (p.Gly55=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1105345	NM_004310.5(RHOH):c.132C>T (p.Asp44=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1086917	NM_004310.5(RHOH):c.75C>T (p.Thr25=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 1056822	NM_004310.5(RHOH):c.530G>A (p.Arg177Gln)	RHOH (R177Q)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1024903	NM_004310.5(RHOH):c.496G>A (p.Ala166Thr)	RHOH (A166T)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 1015888	NM_004310.5(RHOH):c.202A>G (p.Ile68Val)	RHOH (I68V)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	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 944995	NM_004310.5(RHOH):c.88C>T (p.Pro30Ser)	RHOH (P30S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 942905	NM_004310.5(RHOH):c.33C>T (p.Gly11=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 841724	NM_004310.5(RHOH):c.241A>G (p.Met81Val)	RHOH (M81V)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 794035	NM_004310.5(RHOH):c.280T>C (p.Leu94=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 793320	NM_004310.5(RHOH):c.390C>T (p.Cys130=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 728435	NM_004310.5(RHOH):c.495C>T (p.Cys165=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 710717	NM_004310.5(RHOH):c.511G>A (p.Val171Ile)	RHOH (V171I)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GLikely benign
Select item 688574	GRCh37/hg19 4p14(chr4:40061348-40261596)x1	N4BP2, RHOH	Copy number loss	not provided	GUncertain significance
Select item 646961	NC_000004.11:g.(?_40244987)_(40245602_?)dup	RHOH	Duplication	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 639396	NM_004310.5(RHOH):c.391G>A (p.Val131Ile)	RHOH (V131I)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 617610	NM_004310.5(RHOH):c.114C>G (p.Tyr38Ter)	RHOH (Y38*)	Single nucleotide variant (nonsense)	Epidermodysplasia verruciformis, susceptibility to, 4	Grisk factor
Select item 577507	NM_004310.5(RHOH):c.181G>A (p.Gly61Ser)	RHOH (G61S)	Single nucleotide variant (missense variant)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 562907	GRCh37/hg19 4p14(chr4:40203214-40657007)x1	RHOH, RBM47 +1 more	Copy number loss	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 544157	NM_004310.5(RHOH):c.510C>T (p.Ala170=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis +1 more	GBenign/Likely benign
Select item 544156	NM_004310.5(RHOH):c.510C>G (p.Ala170=)	RHOH	Single nucleotide variant (synonymous variant)	T-cell immunodeficiency with epidermodysplasia verruciformis +1 more	GBenign/Likely benign
Select item 477860	NM_004310.5(RHOH):c.537_539del (p.Arg181del)	RHOH (R181del)	Deletion (inframe_deletion)	T-cell immunodeficiency with epidermodysplasia verruciformis	GUncertain significance
Select item 477859	NM_004310.5(RHOH):c.42T>C (p.Ala14=)	RHOH	Single nucleotide variant (synonymous variant)	RHOH-related disorder +1 more	GLikely benign
Select item 477858	NM_004310.5(RHOH):c.144T>C (p.Asp48=)	RHOH	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis, susceptibility to, 4 +2 more	GLikely benign
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
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 57857	GRCh38/hg38 4p14(chr4:39571714-40297938)x3	LOC123477730, LOC126807038 +36 more	Copy number gain	See cases	GUncertain significance

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Items: 93