ClinVar for Gene (Select 64427) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184302	NM_022492.6(TTC31):c.788A>T (p.Gln263Leu)	TTC31 (Q103L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184301	NM_022492.6(TTC31):c.745C>A (p.Pro249Thr)	TTC31 (P249T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184300	NM_022492.6(TTC31):c.626A>T (p.Asp209Val)	TTC31 (D65V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184299	NM_022492.6(TTC31):c.599C>T (p.Pro200Leu)	TTC31 (P129L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184298	NM_022492.6(TTC31):c.328C>T (p.Arg110Cys)	TTC31 (R110C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184297	NM_022492.6(TTC31):c.259G>C (p.Glu87Gln)	TTC31 (E87Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184296	NM_022492.6(TTC31):c.19A>G (p.Thr7Ala)	TTC31 (T7A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3184295	NM_022492.6(TTC31):c.1511G>A (p.Gly504Asp)	TTC31 (G362D +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184294	NM_022492.6(TTC31):c.149G>A (p.Arg50Gln)	TTC31 (R50Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2617957	NM_022492.6(TTC31):c.505C>T (p.Arg169Cys)	TTC31 (R25C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590418	NM_022492.6(TTC31):c.1328A>G (p.His443Arg)	TTC31 (H297R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588149	NM_022492.6(TTC31):c.1120C>T (p.Arg374Trp)	TTC31 (R230W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535057	NM_022492.6(TTC31):c.319T>C (p.Cys107Arg)	TTC31 (C36R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532130	NM_022492.6(TTC31):c.947C>T (p.Ala316Val)	TTC31 (A170V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532032	NM_022492.6(TTC31):c.229C>A (p.His77Asn)	TTC31 (H77N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2531260	NM_022492.6(TTC31):c.416G>T (p.Ser139Ile)	TTC31 (S139I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2493346	NM_022492.6(TTC31):c.745C>T (p.Pro249Ser)	TTC31 (P105S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490998	NM_022492.6(TTC31):c.799C>G (p.Leu267Val)	TTC31 (L196V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466378	NM_022492.6(TTC31):c.406G>A (p.Val136Ile)	TTC31 (V65I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461168	NM_022492.6(TTC31):c.127G>A (p.Glu43Lys)	LOC129934134, TTC31 (E43K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459731	NM_022492.6(TTC31):c.472C>T (p.Arg158Cys)	TTC31 (R14C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454408	NM_022492.6(TTC31):c.1339G>A (p.Ala447Thr)	TTC31 (A275T +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	INO80B, LBX2 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2386399	NM_022492.6(TTC31):c.1222G>A (p.Ala408Thr)	TTC31 (A406T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380576	NM_022492.6(TTC31):c.1162C>T (p.Arg388Cys)	TTC31 (R264C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370713	NM_022492.6(TTC31):c.1106G>A (p.Arg369Gln)	TTC31 (R298Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366355	NM_022492.6(TTC31):c.533G>A (p.Arg178Gln)	TTC31 (R107Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365830	NM_022492.6(TTC31):c.1370C>T (p.Pro457Leu)	TTC31 (P311L +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356649	NM_022492.6(TTC31):c.1541A>G (p.His514Arg)	TTC31 (H512R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341633	NM_022492.6(TTC31):c.1237C>T (p.Arg413Cys)	TTC31 (R259C +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335544	NM_022492.6(TTC31):c.1301C>T (p.Ser434Leu)	TTC31 (S279L +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305354	NM_022492.6(TTC31):c.140A>C (p.Asp47Ala)	TTC31 (D47A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2289468	NM_022492.6(TTC31):c.404G>A (p.Ser135Asn)	TTC31 (S135N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289142	NM_022492.6(TTC31):c.1510G>T (p.Gly504Cys)	TTC31 (G358C +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273030	NM_022492.6(TTC31):c.988C>A (p.Gln330Lys)	TTC31 (Q184K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267541	NM_022492.6(TTC31):c.97A>G (p.Lys33Glu)	TTC31 (K33E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248979	NM_022492.6(TTC31):c.834C>G (p.Ser278Arg)	TTC31 (S118R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241013	NM_022492.6(TTC31):c.713T>C (p.Val238Ala)	TTC31 (V66A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204542	NM_022492.6(TTC31):c.145C>T (p.Leu49Phe)	TTC31 (L49F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55