TTC17[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +71 more	Copy number loss	See cases	GPathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +73 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	ACCS, ACCSL +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +63 more	Duplication	not specified	GUncertain significance
Select item 2261643	NM_018259.6(TTC17):c.5C>G (p.Ala2Gly)	LOC130005583, TTC17 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555378	NM_018259.6(TTC17):c.35A>G (p.Glu12Gly)	LOC130005583, TTC17 (E12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544710	NM_018259.6(TTC17):c.52G>C (p.Gly18Arg)	LOC130005583, TTC17 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263628	NM_018259.6(TTC17):c.152A>G (p.Gln51Arg)	TTC17 (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555920	NM_018259.6(TTC17):c.239A>G (p.Lys80Arg)	TTC17 (K80R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255000	NM_018259.6(TTC17):c.356T>C (p.Val119Ala)	TTC17 (V119A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249422	NM_018259.6(TTC17):c.548T>G (p.Val183Gly)	TTC17 (V183G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250251	NM_018259.6(TTC17):c.767C>T (p.Ser256Phe)	TTC17 (S256F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539147	NM_018259.6(TTC17):c.790G>T (p.Ala264Ser)	TTC17 (A234S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596830	NM_018259.6(TTC17):c.1298G>A (p.Arg433His)	TTC17 (R403H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339617	NM_018259.6(TTC17):c.1351A>G (p.Thr451Ala)	TTC17 (T451A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369715	NM_018259.6(TTC17):c.1406A>G (p.Asn469Ser)	TTC17 (N469S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393785	NM_018259.6(TTC17):c.1441A>G (p.Ile481Val)	TTC17 (I258V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464534	NM_018259.6(TTC17):c.1490A>G (p.His497Arg)	TTC17 (H497R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184113	NM_018259.6(TTC17):c.1577C>T (p.Pro526Leu)	TTC17 (P388L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184114	NM_018259.6(TTC17):c.1581A>T (p.Glu527Asp)	TTC17 (E389D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184116	NM_018259.6(TTC17):c.1583A>G (p.Asn528Ser)	TTC17 (N390S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532692	NM_018259.6(TTC17):c.1646C>T (p.Thr549Ile)	TTC17 (T411I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249027	NM_018259.6(TTC17):c.1660A>G (p.Ile554Val)	TTC17 (I554V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475834	NM_018259.6(TTC17):c.1684A>G (p.Thr562Ala)	TTC17 (T339A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529720	NM_018259.6(TTC17):c.1694A>G (p.Tyr565Cys)	TTC17 (Y427C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250852	NM_018259.6(TTC17):c.1708T>G (p.Leu570Val)	TTC17 (L347V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184117	NM_018259.6(TTC17):c.1720A>G (p.Met574Val)	TTC17 (M436V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184118	NM_018259.6(TTC17):c.1751A>G (p.His584Arg)	TTC17 (H361R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184119	NM_018259.6(TTC17):c.1783A>C (p.Asn595His)	TTC17 (N565H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376744	NM_018259.6(TTC17):c.1831A>G (p.Ile611Val)	TTC17 (I473V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208013	NM_018259.6(TTC17):c.1868A>G (p.Asn623Ser)	TTC17 (N485S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184120	NM_018259.6(TTC17):c.1982T>C (p.Leu661Ser)	TTC17 (L438S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377639	NM_018259.6(TTC17):c.2054A>G (p.Asn685Ser)	TTC17 (N547S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290776	NM_018259.6(TTC17):c.2198G>A (p.Arg733His)	TTC17 (R510H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184121	NM_018259.6(TTC17):c.2203A>G (p.Met735Val)	TTC17 (M705V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323064	NM_018259.6(TTC17):c.2231T>C (p.Ile744Thr)	TTC17 (I744T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243610	NM_018259.6(TTC17):c.2255C>T (p.Thr752Met)	TTC17 (T586M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353111	NM_018259.6(TTC17):c.2273A>G (p.Asn758Ser)	TTC17 (N592S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184122	NM_018259.6(TTC17):c.2335G>A (p.Val779Met)	TTC17 (V749M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184123	NM_018259.6(TTC17):c.2363T>C (p.Leu788Ser)	TTC17 (L788S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388135	NM_018259.6(TTC17):c.2389A>G (p.Met797Val)	TTC17 (M659V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204784	NM_018259.6(TTC17):c.2399G>A (p.Arg800Gln)	TTC17 (R634Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184124	NM_018259.6(TTC17):c.2413C>G (p.Gln805Glu)	TTC17 (Q775E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184125	NM_018259.6(TTC17):c.2501C>T (p.Ala834Val)	TTC17 (A804V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489176	NM_018259.6(TTC17):c.2549G>C (p.Gly850Ala)	TTC17 (G820A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219728	NM_018259.6(TTC17):c.2560A>C (p.Lys854Gln)	TTC17 (K824Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363033	NM_018259.6(TTC17):c.2686C>A (p.Arg896Ser)	TTC17 (R758S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599844	NM_018259.6(TTC17):c.2710G>A (p.Glu904Lys)	TTC17 (E738K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184126	NM_018259.6(TTC17):c.2726G>A (p.Arg909His)	TTC17 (R909H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184128	NM_018259.6(TTC17):c.2760G>C (p.Trp920Cys)	TTC17 (W920C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338418	NM_018259.6(TTC17):c.2764G>A (p.Ala922Thr)	TTC17 (A922T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275690	NM_018259.6(TTC17):c.2782A>G (p.Ile928Val)	TTC17 (I928V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184129	NM_018259.6(TTC17):c.2911A>C (p.Ser971Arg)	TTC17 (S1028R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184130	NM_018259.6(TTC17):c.3086G>A (p.Gly1029Asp)	TTC17 (G999D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184131	NM_018259.6(TTC17):c.3092G>A (p.Gly1031Glu)	TTC17 (G1088E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184132	NM_018259.6(TTC17):c.3145A>G (p.Met1049Val)	TTC17 (M1019V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184133	NM_018259.6(TTC17):c.3194A>G (p.Lys1065Arg)	TTC17 (K1122R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184134	NM_018259.6(TTC17):c.3252T>G (p.Phe1084Leu)	TTC17 (F1084L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229111	NM_018259.6(TTC17):c.3365A>C (p.Lys1122Thr)	TTC17 (K1092T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484792	NM_018259.6(TTC17):c.3412C>T (p.Arg1138Trp)	TTC17 (R1000W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 71