ClinVar for Gene (Select 255104) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326596	NM_181719.7(TMCO4):c.1836G>A (p.Met612Ile)	TMCO4 (M612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326595	NM_181719.7(TMCO4):c.1795G>T (p.Ala599Ser)	TMCO4 (A599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326594	NM_181719.7(TMCO4):c.1103A>G (p.Asn368Ser)	TMCO4 (N368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326593	NM_181719.7(TMCO4):c.472A>T (p.Met158Leu)	TMCO4 (M158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326592	NM_181719.7(TMCO4):c.944C>T (p.Ala315Val)	TMCO4 (A315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326591	NM_181719.7(TMCO4):c.1397T>C (p.Leu466Pro)	TMCO4 (L466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326590	NM_181719.7(TMCO4):c.1582G>A (p.Glu528Lys)	TMCO4 (E528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326588	NM_181719.7(TMCO4):c.1873A>G (p.Lys625Glu)	TMCO4 (K625E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326587	NM_181719.7(TMCO4):c.341C>T (p.Thr114Met)	TMCO4 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326586	NM_181719.7(TMCO4):c.653G>T (p.Gly218Val)	TMCO4 (G218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3234404	NM_181719.7(TMCO4):c.1638A>G (p.Ala546=)	TMCO4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178327	NM_181719.7(TMCO4):c.844G>A (p.Ala282Thr)	TMCO4 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178325	NM_181719.7(TMCO4):c.679G>A (p.Gly227Arg)	TMCO4 (G227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178324	NM_181719.7(TMCO4):c.587C>A (p.Ala196Glu)	TMCO4 (A196E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178323	NM_181719.7(TMCO4):c.586G>A (p.Ala196Thr)	TMCO4 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178322	NM_181719.7(TMCO4):c.520G>A (p.Ala174Thr)	TMCO4 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178321	NM_181719.7(TMCO4):c.47T>C (p.Leu16Pro)	TMCO4 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178320	NM_181719.7(TMCO4):c.1879C>G (p.Gln627Glu)	TMCO4 (Q627E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178319	NM_181719.7(TMCO4):c.1840C>T (p.Pro614Ser)	TMCO4 (P614S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178318	NM_181719.7(TMCO4):c.1581C>A (p.Asp527Glu)	TMCO4 (D527E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178317	NM_181719.7(TMCO4):c.1552G>A (p.Val518Met)	TMCO4 (V518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178316	NM_181719.7(TMCO4):c.1442G>A (p.Gly481Asp)	TMCO4 (G481D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178315	NM_181719.7(TMCO4):c.1336C>G (p.Pro446Ala)	TMCO4 (P446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178314	NM_181719.7(TMCO4):c.1172G>A (p.Arg391Gln)	TMCO4 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063033	GRCh37/hg19 1p36.13(chr1:20058581-20169174)x1	RNF186, TMCO4	Copy number loss	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2598510	NM_181719.7(TMCO4):c.1666C>T (p.Pro556Ser)	TMCO4 (P556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569855	NM_181719.7(TMCO4):c.434T>A (p.Leu145His)	TMCO4 (L145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552673	NM_181719.7(TMCO4):c.706G>A (p.Gly236Ser)	TMCO4 (G236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551465	NM_181719.7(TMCO4):c.14A>G (p.Asn5Ser)	TMCO4 (N5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526995	NM_181719.7(TMCO4):c.1212C>G (p.Ser404Arg)	TMCO4 (S404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522932	NM_181719.7(TMCO4):c.715A>G (p.Ile239Val)	TMCO4 (I239V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489174	NM_181719.7(TMCO4):c.1430T>A (p.Leu477His)	TMCO4 (L477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468586	NM_181719.7(TMCO4):c.626G>C (p.Gly209Ala)	TMCO4 (G209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455223	NM_181719.7(TMCO4):c.1411C>T (p.Arg471Cys)	TMCO4 (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2396299	NM_181719.7(TMCO4):c.569A>G (p.Tyr190Cys)	TMCO4 (Y190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390951	NM_181719.7(TMCO4):c.649G>A (p.Ala217Thr)	TMCO4 (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382626	NM_181719.7(TMCO4):c.709A>G (p.Ile237Val)	TMCO4 (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361898	NM_181719.7(TMCO4):c.1625A>T (p.Glu542Val)	TMCO4 (E542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344908	NM_181719.7(TMCO4):c.551G>A (p.Arg184Gln)	TMCO4 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342242	NM_181719.7(TMCO4):c.176A>G (p.His59Arg)	TMCO4 (H59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334907	NM_181719.7(TMCO4):c.1043G>T (p.Gly348Val)	TMCO4 (G348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327600	NM_181719.7(TMCO4):c.1309G>A (p.Val437Met)	TMCO4 (V437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319179	NM_181719.7(TMCO4):c.1589G>A (p.Gly530Glu)	TMCO4 (G530E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303427	NM_181719.7(TMCO4):c.718A>G (p.Met240Val)	TMCO4 (M240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303377	NM_181719.7(TMCO4):c.32T>A (p.Leu11Gln)	TMCO4 (L11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301355	NM_181719.7(TMCO4):c.421A>G (p.Met141Val)	TMCO4 (M141V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290921	NM_181719.7(TMCO4):c.223G>C (p.Glu75Gln)	TMCO4 (E75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276380	NM_181719.7(TMCO4):c.917G>A (p.Arg306His)	TMCO4 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263865	NM_181719.7(TMCO4):c.1541T>A (p.Ile514Asn)	TMCO4 (I514N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240539	NM_181719.7(TMCO4):c.95G>A (p.Arg32Gln)	TMCO4 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239653	NM_181719.7(TMCO4):c.1562G>A (p.Arg521His)	TMCO4 (R521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209035	NM_181719.7(TMCO4):c.1630C>T (p.Arg544Cys)	TMCO4 (R544C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204569	NM_181719.7(TMCO4):c.201G>A (p.Met67Ile)	TMCO4 (M67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 980390	GRCh37/hg19 1p36.13(chr1:19809464-20123500)x3	TMCO4, CAPZB +4 more	Copy number gain	not provided	GUncertain significance
Select item 814062	GRCh37/hg19 1p36.13-36.12(chr1:20100416-20549013)x3	PLA2G2F, PLA2G5 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78