TMEM64[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 155616	GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1	C8orf88, LINC01030 +16 more	Copy number loss	See cases	GLikely benign
Select item 2341265	NM_001008495.4(TMEM64):c.1118C>T (p.Ser373Phe)	TMEM64 (S321F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402718	NM_001008495.4(TMEM64):c.958A>G (p.Ile320Val)	TMEM64 (I320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327167	NM_001008495.4(TMEM64):c.938T>G (p.Val313Gly)	TMEM64 (V313G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179611	NM_001008495.4(TMEM64):c.886C>A (p.Leu296Met)	TMEM64 (L296M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272697	NM_001008495.4(TMEM64):c.884C>T (p.Thr295Ile)	TMEM64 (T295I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587960	NM_001008495.4(TMEM64):c.869C>G (p.Ser290Cys)	TMEM64 (S290C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308424	NM_001008495.4(TMEM64):c.814C>T (p.Pro272Ser)	TMEM64 (P272S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327162	NM_001008495.4(TMEM64):c.748G>A (p.Ala250Thr)	LOC130000720, TMEM64 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179610	NM_001008495.4(TMEM64):c.715G>A (p.Glu239Lys)	LOC130000720, TMEM64 (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327166	NM_001008495.4(TMEM64):c.625G>T (p.Ala209Ser)	LOC130000720, TMEM64 (A209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538932	NM_001008495.4(TMEM64):c.602G>A (p.Gly201Asp)	LOC130000720, TMEM64 (G201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179609	NM_001008495.4(TMEM64):c.596T>C (p.Met199Thr)	LOC130000720, TMEM64 (M199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243816	NM_001008495.4(TMEM64):c.593T>C (p.Met198Thr)	LOC130000720, TMEM64 (M198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179606	NM_001008495.4(TMEM64):c.340C>T (p.Leu114Phe)	LOC130000721, TMEM64 (L114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327164	NM_001008495.4(TMEM64):c.220G>C (p.Gly74Arg)	LOC130000721, TMEM64 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327165	NM_001008495.4(TMEM64):c.212A>G (p.Glu71Gly)	LOC130000721, TMEM64 (E71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515950	NM_001008495.4(TMEM64):c.205T>C (p.Tyr69His)	LOC130000721, TMEM64 (Y69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179605	NM_001008495.4(TMEM64):c.152G>T (p.Gly51Val)	LOC130000721, TMEM64 (G51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179604	NM_001008495.4(TMEM64):c.151G>T (p.Gly51Trp)	LOC130000721, TMEM64 (G51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364500	NM_001008495.4(TMEM64):c.151G>A (p.Gly51Arg)	LOC130000721, TMEM64 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179603	NM_001008495.4(TMEM64):c.142C>T (p.Arg48Cys)	LOC130000721, TMEM64 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493050	NM_001008495.4(TMEM64):c.130G>C (p.Asp44His)	LOC130000721, TMEM64 (D44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515602	NM_001008495.4(TMEM64):c.128C>A (p.Ala43Glu)	LOC130000721, TMEM64 (A43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528752	NM_001008495.4(TMEM64):c.86C>T (p.Ala29Val)	LOC130000721, TMEM64 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327163	NM_001008495.4(TMEM64):c.76G>A (p.Glu26Lys)	LOC130000721, TMEM64 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179608	NM_001008495.4(TMEM64):c.55G>T (p.Ala19Ser)	LOC130000721, TMEM64 (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535994	NM_001008495.4(TMEM64):c.37C>A (p.Pro13Thr)	LOC130000721, TMEM64 (P13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290667	NM_001008495.4(TMEM64):c.8G>A (p.Ser3Asn)	LOC130000721, TMEM64 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979842	GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3	NBN, OSGIN2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441616	GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3	CALB1, LRRC69 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 66