ClinVar for Gene (Select 399) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257858	NM_004310.5(RHOH):c.-331+2T>C	RHOH	Single nucleotide variant (intron variant +1 more)	Neoplasm	OUncertain significance
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)	not specified +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	APBB2, CHRNA9 +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 +1 more	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	GBenign
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)	T-cell immunodeficiency with epidermodysplasia verruciformis	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 94