ClinVar for Gene (Select 55761) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329782	NM_018259.6(TTC17):c.3371G>A (p.Arg1124Gln)	TTC17 (R958Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329780	NM_018259.6(TTC17):c.73C>T (p.Leu25Phe)	LOC130005583, TTC17 (L25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329779	NM_018259.6(TTC17):c.2855A>G (p.Asn952Ser)	TTC17 (N786S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329778	NM_018259.6(TTC17):c.2912G>A (p.Ser971Asn)	TTC17 (S833N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329777	NM_018259.6(TTC17):c.1403T>C (p.Ile468Thr)	TTC17 (I438T +3 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 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	MMP13, MMP20 +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)	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 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
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 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 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
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76