TMEM40[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 1213769	NC_000003.12:g.12589035_12766981dup	LOC129936179, LOC129936180 +10 more	Duplication	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 150067	GRCh38/hg38 3p25.2(chr3:12591863-12751749)x3	LOC129936177, LOC129936178 +7 more	Copy number gain	See cases	GLikely benign
Select item 57698	GRCh38/hg38 3p25.2(chr3:12599858-12748947)x3	LOC129936177, LOC129936178 +5 more	Copy number gain	See cases	GUncertain significance
Select item 152463	GRCh38/hg38 3p25.2(chr3:12604564-12751625)x4	LOC129936177, LOC129936178 +7 more	Copy number gain	See cases	GLikely benign
Select item 152462	GRCh38/hg38 3p25.2(chr3:12604564-12751625)x3	LOC129936177, LOC129936178 +7 more	Copy number gain	See cases	GLikely benign
Select item 57699	GRCh38/hg38 3p25.2(chr3:12608508-12802654)x3	CAND2, LOC129936177 +10 more	Copy number gain	See cases	GUncertain significance
Select item 146571	GRCh38/hg38 3p25.2(chr3:12642555-12734272)x3	LOC129936177, LOC129936178 +3 more	Copy number gain	See cases	GBenign
Select item 2530194	NM_018306.4(TMEM40):c.698A>G (p.Asp233Gly)	TMEM40 (D203G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179467	NM_018306.4(TMEM40):c.655C>T (p.Pro219Ser)	TMEM40 (P219S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607979	NM_018306.4(TMEM40):c.637G>A (p.Val213Ile)	TMEM40 (V229I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304764	NM_018306.4(TMEM40):c.625C>T (p.Arg209Cys)	TMEM40 (R179C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352819	NM_018306.4(TMEM40):c.613G>A (p.Gly205Arg)	TMEM40 (G221R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323405	NM_018306.4(TMEM40):c.610T>A (p.Phe204Ile)	TMEM40 (F220I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245427	NM_018306.4(TMEM40):c.581T>G (p.Phe194Cys)	TMEM40 (F194C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333609	NM_018306.4(TMEM40):c.565G>A (p.Val189Ile)	TMEM40 (V113I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179466	NM_018306.4(TMEM40):c.536A>G (p.Tyr179Cys)	TMEM40 (Y179C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179465	NM_018306.4(TMEM40):c.505G>T (p.Ala169Ser)	TMEM40 (A139S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593476	NM_018306.4(TMEM40):c.458A>C (p.Asn153Thr)	TMEM40 (N153T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179464	NM_018306.4(TMEM40):c.346C>T (p.Leu116Phe)	TMEM40 (L86F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325713	NM_018306.4(TMEM40):c.292G>A (p.Gly98Ser)	TMEM40 (G114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179463	NM_018306.4(TMEM40):c.290A>G (p.Asn97Ser)	TMEM40 (N113S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310936	NM_018306.4(TMEM40):c.287G>A (p.Gly96Glu)	TMEM40 (G96E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542326	NM_018306.4(TMEM40):c.278A>G (p.Tyr93Cys)	TMEM40 (Y109C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472479	NM_018306.4(TMEM40):c.264C>G (p.Ser88Arg)	TMEM40 (S88R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368790	NM_018306.4(TMEM40):c.257G>C (p.Arg86Pro)	TMEM40 (R86P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344062	NM_018306.4(TMEM40):c.257G>A (p.Arg86Gln)	TMEM40 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456577	NM_018306.4(TMEM40):c.236C>G (p.Pro79Arg)	TMEM40 (P95R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358958	NM_018306.4(TMEM40):c.136G>A (p.Glu46Lys)	TMEM40 (E46K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2265197	NM_018306.4(TMEM40):c.113G>T (p.Gly38Val)	TMEM40 (G38V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179462	NM_018306.4(TMEM40):c.103G>A (p.Gly35Arg)	TMEM40 (G35R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2381507	NM_018306.4(TMEM40):c.58A>G (p.Thr20Ala)	TMEM40 (T20A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405340	NM_018306.4(TMEM40):c.36C>A (p.Asp12Glu)	TMEM40 (D12E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399965	NM_018306.4(TMEM40):c.26A>G (p.Gln9Arg)	TMEM40 (Q9R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541068	NM_018306.4(TMEM40):c.13G>A (p.Ala5Thr)	TMEM40 (A5T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1527000	GRCh37/hg19 3p25.2(chr3:12503638-12803254)	MKRN2, RAF1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1439808	NC_000003.11:g.(?_12641190)_(12791339_?)dup	RAF1, TMEM40	Duplication	RASopathy	GUncertain significance
Select item 980629	GRCh37/hg19 3p25.2(chr3:12522670-12893013)x3	RAF1, CAND2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 977456	Single allele	RAF1, TMEM40	Duplication	not provided	GUncertain significance
Select item 688548	GRCh37/hg19 3p25.2(chr3:12630746-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 688479	GRCh37/hg19 3p25.2(chr3:12630912-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 687639	GRCh37/hg19 3p25.2(chr3:12630912-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 686523	GRCh37/hg19 3p25.2(chr3:12630912-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 686502	GRCh37/hg19 3p25.2(chr3:12630747-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 686031	GRCh37/hg19 3p25.2(chr3:12630912-12811743)x3	RAF1, TMEM40	Copy number gain	not provided	GUncertain significance
Select item 685160	GRCh37/hg19 3p25.2(chr3:12630912-12839659)x3	CAND2, RAF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562756	GRCh37/hg19 3p25.2(chr3:12630912-12839915)x3	RAF1, CAND2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562755	GRCh37/hg19 3p25.2(chr3:12534326-12826919)x3	TMEM40, MKRN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562754	GRCh37/hg19 3p25.2(chr3:12526440-12839915)x3	TMEM40, TSEN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 560052	Single allele	CAND2, IQSEC1 +4 more	Duplication	not provided	GUncertain significance
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 395579	GRCh37/hg19 3p25.2(chr3:12633308-12777019)x3	RAF1, TMEM40	Copy number gain	See cases	GLikely pathogenic
Select item 394916	GRCh37/hg19 3p25.2(chr3:12633308-12800778)x4	RAF1, TMEM40	Copy number gain	See cases	GLikely benign
Select item 394179	GRCh37/hg19 3p25.2(chr3:12633308-12785367)x3	RAF1, TMEM40	Copy number gain	See cases	GLikely benign

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Items: 71