ClinVar for Gene (Select 646754) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3461542	NM_001206631.1(TRIM64C):c.317A>T (p.Asp106Val)	TRIM64C (D106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461541	NM_001206631.1(TRIM64C):c.1043C>A (p.Thr348Asn)	TRIM64C (T348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461540	NM_001206631.1(TRIM64C):c.64T>C (p.Phe22Leu)	TRIM64C (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461539	NM_001206631.1(TRIM64C):c.74C>T (p.Pro25Leu)	TRIM64C (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461538	NM_001206631.1(TRIM64C):c.890C>T (p.Pro297Leu)	TRIM64C (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461537	NM_001206631.1(TRIM64C):c.880G>A (p.Glu294Lys)	TRIM64C (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461536	NM_001206631.1(TRIM64C):c.328C>T (p.Leu110Phe)	TRIM64C (L110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461535	NM_001206631.1(TRIM64C):c.1286T>C (p.Ile429Thr)	TRIM64C (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461534	NM_001206631.1(TRIM64C):c.77T>G (p.Val26Gly)	TRIM64C (V26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328898	NM_001206631.1(TRIM64C):c.161T>C (p.Leu54Ser)	TRIM64C (L54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328897	NM_001206631.1(TRIM64C):c.611A>G (p.Glu204Gly)	TRIM64C (E204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328895	NM_001206631.1(TRIM64C):c.691A>G (p.Arg231Gly)	TRIM64C (R231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328894	NM_001206631.1(TRIM64C):c.269A>T (p.Asn90Ile)	TRIM64C (N90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328893	NM_001206631.1(TRIM64C):c.194A>G (p.Asn65Ser)	TRIM64C (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328892	NM_001206631.1(TRIM64C):c.755C>T (p.Ser252Leu)	TRIM64C (S252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328891	NM_001206631.1(TRIM64C):c.1262T>C (p.Phe421Ser)	TRIM64C (F421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328890	NM_001206631.1(TRIM64C):c.1152C>A (p.Ser384Arg)	TRIM64C (S384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182687	NM_001206631.1(TRIM64C):c.988G>C (p.Val330Leu)	TRIM64C (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182686	NM_001206631.1(TRIM64C):c.763A>G (p.Thr255Ala)	TRIM64C (T255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182685	NM_001206631.1(TRIM64C):c.659C>T (p.Thr220Ile)	TRIM64C (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182684	NM_001206631.1(TRIM64C):c.586C>T (p.Arg196Trp)	TRIM64C (R196W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182683	NM_001206631.1(TRIM64C):c.536T>C (p.Ile179Thr)	TRIM64C (I179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182682	NM_001206631.1(TRIM64C):c.489C>A (p.Ser163Arg)	TRIM64C (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182681	NM_001206631.1(TRIM64C):c.319A>G (p.Lys107Glu)	TRIM64C (K107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182680	NM_001206631.1(TRIM64C):c.230C>A (p.Ala77Asp)	TRIM64C (A77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182679	NM_001206631.1(TRIM64C):c.151C>T (p.Arg51Cys)	TRIM64C (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182678	NM_001206631.1(TRIM64C):c.1316C>A (p.Ser439Tyr)	TRIM64C (S439Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182677	NM_001206631.1(TRIM64C):c.1280C>A (p.Ser427Tyr)	TRIM64C (S427Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182676	NM_001206631.1(TRIM64C):c.1276G>A (p.Gly426Ser)	TRIM64C (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182675	NM_001206631.1(TRIM64C):c.1076G>A (p.Arg359Gln)	TRIM64C (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182674	NM_001206631.1(TRIM64C):c.1019A>G (p.Lys340Arg)	TRIM64C (K340R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2641779	NM_001206631.1(TRIM64C):c.75G>A (p.Pro25=)	TRIM64C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641778	NM_001206631.1(TRIM64C):c.798G>T (p.Val266=)	TRIM64C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612925	NM_001206631.1(TRIM64C):c.52T>G (p.Cys18Gly)	TRIM64C (C18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600195	NM_001206631.1(TRIM64C):c.1300C>A (p.Pro434Thr)	TRIM64C (P434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567081	NM_001206631.1(TRIM64C):c.545A>C (p.Gln182Pro)	TRIM64C (Q182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557304	NM_001206631.1(TRIM64C):c.1165C>T (p.Leu389Phe)	TRIM64C (L389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540894	NM_001206631.1(TRIM64C):c.584A>G (p.Gln195Arg)	TRIM64C (Q195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525388	NM_001206631.1(TRIM64C):c.573T>G (p.Asp191Glu)	TRIM64C (D191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519964	NM_001206631.1(TRIM64C):c.922C>T (p.Arg308Cys)	TRIM64C (R308C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2489557	NM_001206631.1(TRIM64C):c.365C>T (p.Ala122Val)	TRIM64C (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469511	NM_001206631.1(TRIM64C):c.910G>A (p.Glu304Lys)	TRIM64C (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465989	NM_001206631.1(TRIM64C):c.838G>A (p.Asp280Asn)	TRIM64C (D280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465853	NM_001206631.1(TRIM64C):c.1055A>G (p.Asn352Ser)	TRIM64C (N352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411555	NM_001206631.1(TRIM64C):c.88T>G (p.Cys30Gly)	TRIM64C (C30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379030	NM_001206631.1(TRIM64C):c.571G>A (p.Asp191Asn)	TRIM64C (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375340	NM_001206631.1(TRIM64C):c.253A>G (p.Ile85Val)	TRIM64C (I85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374753	NM_001206631.1(TRIM64C):c.852C>A (p.Asn284Lys)	TRIM64C (N284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363860	NM_001206631.1(TRIM64C):c.334G>T (p.Gly112Trp)	TRIM64C (G112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361197	NM_001206631.1(TRIM64C):c.34G>A (p.Glu12Lys)	TRIM64C (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357110	NM_001206631.1(TRIM64C):c.435C>G (p.Asp145Glu)	TRIM64C (D145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344446	NM_001206631.1(TRIM64C):c.950G>A (p.Ser317Asn)	TRIM64C (S317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318420	NM_001206631.1(TRIM64C):c.1241A>G (p.Asp414Gly)	TRIM64C (D414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304264	NM_001206631.1(TRIM64C):c.674G>A (p.Gly225Glu)	TRIM64C (G225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254055	NM_001206631.1(TRIM64C):c.746G>A (p.Gly249Glu)	TRIM64C (G249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237669	NM_001206631.1(TRIM64C):c.1135A>G (p.Ile379Val)	TRIM64C (I379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226628	NM_001206631.1(TRIM64C):c.962A>T (p.Asp321Val)	TRIM64C (D321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979919	GRCh37/hg19 11p11.2-11.12(chr11:48242702-49562051)x3	TRIM49B, OR4C3 +6 more	Copy number gain	not provided	GLikely benign
Select item 563864	GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)x3	OR4X1, TRIM49B +8 more	Copy number gain	not provided	GLikely benign
Select item 443530	GRCh37/hg19 11p11.2-11.12(chr11:48149532-49434855)x3	FOLH1, OR4A47 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 155539	GRCh38/hg38 11p11.12(chr11:49057305-49831850)x1	FOLH1, TRIM64C	Copy number loss	See cases	GUncertain significance
Select item 153449	GRCh38/hg38 11p11.12(chr11:48946095-50560016)x1	OR4C13, OR4C45 +6 more	Copy number loss	See cases	GUncertain significance
Select item 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 70