ClinVar for Gene (Select 54970) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357834	NM_017868.4(TTC12):c.1166C>T (p.Ala389Val)	TTC12 (A364V +3 more)	Single nucleotide variant (missense variant +1 more)	TTC12-related disorder	GUncertain significance
Select item 3329763	NM_017868.4(TTC12):c.226G>A (p.Ala76Thr)	TTC12 (A51T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329762	NM_017868.4(TTC12):c.431C>T (p.Thr144Ile)	TTC12 (T119I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329760	NM_017868.4(TTC12):c.1365G>C (p.Met455Ile)	TTC12 (M430I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329759	NM_017868.4(TTC12):c.265G>A (p.Glu89Lys)	TTC12 (E64K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329758	NM_017868.4(TTC12):c.1738C>T (p.Arg580Cys)	TTC12 (R555C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329757	NM_017868.4(TTC12):c.857A>G (p.Asn286Ser)	TTC12 (N292S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329756	NM_017868.4(TTC12):c.2032G>A (p.Ala678Thr)	TTC12 (A684T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329755	NM_017868.4(TTC12):c.417G>C (p.Met139Ile)	TTC12 (M114I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184066	NM_017868.4(TTC12):c.975C>G (p.Cys325Trp)	TTC12 (C300W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184064	NM_017868.4(TTC12):c.574G>A (p.Val192Met)	TTC12 (V167M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184063	NM_017868.4(TTC12):c.2036A>T (p.Glu679Val)	TTC12 (E654V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184061	NM_017868.4(TTC12):c.1789C>T (p.Arg597Trp)	TTC12 (R597W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184060	NM_017868.4(TTC12):c.1681G>A (p.Ala561Thr)	TTC12 (A562T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184059	NM_017868.4(TTC12):c.1636C>T (p.Arg546Trp)	TTC12 (R547W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184058	NM_017868.4(TTC12):c.1523T>C (p.Leu508Pro)	TTC12 (L483P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184057	NM_017868.4(TTC12):c.1481A>G (p.Glu494Gly)	TTC12 (E494G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184056	NM_017868.4(TTC12):c.116T>C (p.Leu39Pro)	TTC12 (L14P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184055	NM_017868.4(TTC12):c.102A>T (p.Gln34His)	TTC12 (Q34H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184054	NM_017868.4(TTC12):c.1019A>G (p.Asp340Gly)	LOC126861342, TTC12 (D315G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3054040	NM_017868.4(TTC12):c.1713G>T (p.Leu571=)	TTC12	Single nucleotide variant (synonymous variant +1 more)	TTC12-related disorder	GLikely benign
Select item 3047617	NM_017868.4(TTC12):c.2070T>C (p.His690=)	TTC12	Single nucleotide variant (synonymous variant +1 more)	TTC12-related disorder	GLikely benign
Select item 3034669	NM_017868.4(TTC12):c.1446+2T>C	TTC12	Single nucleotide variant (splice donor variant)	TTC12-related disorder	GLikely benign
Select item 3029154	NM_017868.4(TTC12):c.59-4C>G	TTC12	Single nucleotide variant (intron variant)	TTC12-related disorder	GLikely benign
Select item 3025117	NM_017868.4(TTC12):c.1770G>A (p.Thr590=)	TTC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642379	NM_017868.4(TTC12):c.2042+6C>G	TTC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642378	NM_017868.4(TTC12):c.1191G>C (p.Ser397=)	TTC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642377	NM_017868.4(TTC12):c.951T>C (p.Val317=)	TTC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630748	NM_017868.4(TTC12):c.1411T>C (p.Cys471Arg)	TTC12 (C446R +3 more)	Single nucleotide variant (missense variant +1 more)	TTC12-related disorder	GUncertain significance
Select item 2610691	NM_017868.4(TTC12):c.1381G>A (p.Glu461Lys)	TTC12 (E461K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602348	NM_017868.4(TTC12):c.85G>C (p.Asp29His)	TTC12 (D29H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599159	NM_017868.4(TTC12):c.1975A>G (p.Thr659Ala)	TTC12 (T665A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2593874	NM_017868.4(TTC12):c.1742A>G (p.Tyr581Cys)	TTC12 (Y581C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590719	NM_017868.4(TTC12):c.1234G>A (p.Ala412Thr)	TTC12 (A387T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588802	NM_017868.4(TTC12):c.1792G>A (p.Glu598Lys)	TTC12 (E604K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578377	NM_017868.4(TTC12):c.1801A>G (p.Ile601Val)	TTC12 (I576V +3 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 45 +1 more	GConflicting classifications of pathogenicity
Select item 2512335	NM_017868.4(TTC12):c.976A>G (p.Ser326Gly)	TTC12 (S326G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482660	NM_017868.4(TTC12):c.1813A>G (p.Lys605Glu)	TTC12 (K580E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470809	NM_017868.4(TTC12):c.851T>A (p.Met284Lys)	TTC12 (M285K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469435	NM_017868.4(TTC12):c.1684G>C (p.Gly562Arg)	TTC12 (G562R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463456	NM_017868.4(TTC12):c.26T>G (p.Leu9Trp)	TTC12 (L9W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2460263	NM_017868.4(TTC12):c.998G>A (p.Arg333His)	LOC126861342, TTC12 (R339H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377549	NM_017868.4(TTC12):c.283C>T (p.Arg95Ter)	TTC12 (R70* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2371513	NM_017868.4(TTC12):c.1039G>A (p.Ala347Thr)	LOC126861342, TTC12 (A347T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2361637	NM_017868.4(TTC12):c.2002G>A (p.Ala668Thr)	TTC12 (A668T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299572	NM_017868.4(TTC12):c.134T>G (p.Leu45Arg)	TTC12 (L45R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289719	NM_017868.4(TTC12):c.997C>T (p.Arg333Cys)	LOC126861342, TTC12 (R334C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287469	NM_017868.4(TTC12):c.1295T>C (p.Leu432Pro)	TTC12 (L407P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266660	NM_017868.4(TTC12):c.2107A>C (p.Ser703Arg)	TTC12 (S678R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257729	NM_017868.4(TTC12):c.1790G>C (p.Arg597Pro)	TTC12 (R597P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253431	NM_017868.4(TTC12):c.1934C>T (p.Thr645Met)	TTC12 (T645M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2247970	NM_017868.4(TTC12):c.1567A>G (p.Arg523Gly)	TTC12 (R498G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242980	NM_017868.4(TTC12):c.856A>G (p.Asn286Asp)	TTC12 (N287D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2238474	NM_017868.4(TTC12):c.329A>G (p.Lys110Arg)	TTC12 (K85R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235290	NM_017868.4(TTC12):c.142A>G (p.Met48Val)	TTC12 (M48V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233735	NM_017868.4(TTC12):c.1273C>A (p.Leu425Ile)	TTC12 (L425I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222806	NM_017868.4(TTC12):c.185A>G (p.Asn62Ser)	TTC12 (N37S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1290822	NM_017868.4(TTC12):c.1446+55G>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287032	NM_017868.4(TTC12):c.504+8G>A	TTC12	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 45 +1 more	GBenign
Select item 1286214	NM_017868.4(TTC12):c.1446+205T>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283643	NC_000011.10:g.113366469G>T	TTC12	Single nucleotide variant	not provided	GBenign
Select item 1281016	NM_017868.4(TTC12):c.827-16T>G	TTC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1280036	NM_017868.4(TTC12):c.1816+30T>C	TTC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278788	NM_017868.4(TTC12):c.1615-64G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277251	NM_017868.4(TTC12):c.577-68C>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276089	NM_017868.4(TTC12):c.1817-92G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275576	NM_017868.4(TTC12):c.1816+126A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273816	NM_017868.4(TTC12):c.1614+198A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272523	NM_017868.4(TTC12):c.2042+82A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270524	NM_017868.4(TTC12):c.59-167dup	TTC12	Duplication (intron variant)	not provided	GBenign
Select item 1268931	NM_017868.4(TTC12):c.1247+24T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265170	NM_017868.4(TTC12):c.59-34T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264231	NM_017868.4(TTC12):c.1817-138A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258984	NM_017868.4(TTC12):c.217A>C (p.Met73Leu)	TTC12 (M48L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1253908	NM_017868.4(TTC12):c.-15-86C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252396	NM_017868.4(TTC12):c.1614+44TTGTT[10]	TTC12	Microsatellite (intron variant)	not provided	GBenign
Select item 1251327	NM_017868.4(TTC12):c.59-47C>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250786	NM_017868.4(TTC12):c.445-84A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250214	NM_017868.4(TTC12):c.-15-189G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250113	NM_017868.4(TTC12):c.59-174A>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250043	NM_017868.4(TTC12):c.1614+44TTGTT[9]	TTC12	Microsatellite (intron variant)	not provided	GBenign
Select item 1245896	NM_017868.4(TTC12):c.1116C>T (p.Ser372=)	TTC12, LOC126861342	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1244086	NM_017868.4(TTC12):c.322+191A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236408	NM_017868.4(TTC12):c.1447-150C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231534	NM_017868.4(TTC12):c.1717-84G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230670	NM_017868.4(TTC12):c.827-57G>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227230	NM_017868.4(TTC12):c.897-6T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226296	NM_017868.4(TTC12):c.504+30A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225031	NM_017868.4(TTC12):c.59-167del	TTC12	Deletion (intron variant)	not provided	GBenign
Select item 1223951	NM_017868.4(TTC12):c.1546-62C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220837	NM_017868.4(TTC12):c.222+156del	TTC12	Deletion (intron variant)	not provided	GBenign
Select item 1183688	NM_017868.4(TTC12):c.1717-79A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 816693	NM_017868.4(TTC12):c.1700T>G (p.Met567Arg)	TTC12 (M567R +3 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 45	GPathogenic

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