"Ambry Genetics"[submitter] AND "IFT172"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260801	NM_015662.3(IFT172):c.5229C>A (p.Ser1743Arg)	IFT172, KRTCAP3 (S1721R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275558	NM_015662.3(IFT172):c.5159A>C (p.Lys1720Thr)	IFT172, KRTCAP3 (K1698T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 968095	NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)	IFT172, KRTCAP3 (M1717L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1007656	NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)	IFT172, KRTCAP3 (D1710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2198491	NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)	IFT172, KRTCAP3 (A1706T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1461096	NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)	KRTCAP3, IFT172 (P1685S +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1423606	NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)	IFT172, KRTCAP3 (A1669T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1036252	NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)	IFT172, KRTCAP3 (E1666K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 964187	NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)	KRTCAP3, IFT172 (R1664Q +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 3108388	NM_015662.3(IFT172):c.4970G>A (p.Arg1657Gln)	IFT172, KRTCAP3 (R1635Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3108387	NM_015662.3(IFT172):c.4941C>G (p.Asp1647Glu)	IFT172, KRTCAP3 (D1647E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1001774	NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)	IFT172, KRTCAP3 (R1646Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 2290724	NM_015662.3(IFT172):c.4913C>T (p.Pro1638Leu)	IFT172, KRTCAP3 (P1616L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1412948	NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)	IFT172, KRTCAP3	Duplication (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1390257	NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)	IFT172, KRTCAP3 (D1616G +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 662250	NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)	IFT172, KRTCAP3 (R1559S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2305984	NM_015662.3(IFT172):c.4648G>T (p.Val1550Phe)	IFT172 (V1528F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285419	NM_015662.3(IFT172):c.4596G>C (p.Lys1532Asn)	IFT172 (K1532N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227686	NM_015662.3(IFT172):c.4585GAG[1] (p.Glu1530del)	IFT172 (E1530del +1 more)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1986820	NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)	IFT172 (S1480C +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 3108386	NM_015662.3(IFT172):c.4495G>A (p.Ala1499Thr)	IFT172 (A1477T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1359208	NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)	IFT172 (E1498K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1406962	NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser)	IFT172 (N1495S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2268289	NM_015662.3(IFT172):c.4469G>C (p.Ser1490Thr)	IFT172 (S1468T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293340	NM_015662.3(IFT172):c.4424C>G (p.Pro1475Arg)	IFT172 (P1453R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 944063	NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)	IFT172 (G1470R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +3 more	GUncertain significance
Select item 1398484	NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp)	IFT172 (G1457D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1444452	NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)	IFT172 (T1451A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GUncertain significance
Select item 1005129	NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)	IFT172 (D1428E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 719104	NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)	IFT172 (V1410L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GLikely benign
Select item 864375	NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)	IFT172 (G1404S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 641124	NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)	IFT172 (Q1403H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1523079	NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro)	IFT172 (L1400P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 854218	NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu)	IFT172 (Q1394E)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 2238999	NM_015662.3(IFT172):c.4050+6T>C	IFT172	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2533464	NM_015662.3(IFT172):c.3988C>T (p.Arg1330Cys)	IFT172 (R1308C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420159	NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln)	IFT172, LOC126806173 (R1303Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 835613	NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)	IFT172, LOC126806173 (V1296M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1020285	NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)	IFT172, LOC126806173 (R1284Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1002102	NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)	LOC126806173, IFT172 (G1275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2469390	NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)	IFT172, LOC126806173 (K1270Q +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2083739	NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)	IFT172, LOC126806173 (R1244Q +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 854217	NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val)	IFT172, LOC126806173 (L1260V)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 1284690	NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)	IFT172, LOC126806173 (E1238A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 707240	NM_015662.3(IFT172):c.3711+3G>A	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 943315	NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)	IFT172, LOC126806173 (N1234H)	Single nucleotide variant (missense variant)	IFT172-related disorder +4 more	GUncertain significance
Select item 837274	NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	IFT172, LOC126806173 (R1225Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +5 more	GConflicting classifications of pathogenicity
Select item 1015981	NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln)	IFT172, LOC126806173 (R1208Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 707217	NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)	IFT172, LOC126806173 (V1204L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1058947	NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys)	IFT172, LOC126806173 (E1201K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GUncertain significance
Select item 1362930	NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn)	IFT172, LOC126806173 (D1195N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 961818	NM_015662.3(IFT172):c.3566G>A (p.Arg1189His)	IFT172, LOC126806173 (R1189H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 843450	NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)	IFT172, LOC126806173 (H1180Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1054331	NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)	IFT172 (N1123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 853137	NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)	IFT172 (V1090M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GConflicting classifications of pathogenicity
Select item 3108385	NM_015662.3(IFT172):c.3259C>T (p.His1087Tyr)	IFT172 (H1087Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490330	NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)	IFT172 (G1082R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1039239	NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)	IFT172 (R1066Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1415255	NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)	IFT172 (R1066W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1010990	NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)	IFT172 (A1060T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 2245864	NM_015662.3(IFT172):c.3176A>G (p.Lys1059Arg)	IFT172 (K1037R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411653	NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)	IFT172 (E1049A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GUncertain significance
Select item 953338	NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)	IFT172 (L1002H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2303199	NM_015662.3(IFT172):c.2976-2A>T	IFT172	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 933834	NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)	IFT172 (G985S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1057101	NM_015662.3(IFT172):c.2884A>G (p.Met962Val)	IFT172 (M962V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 969005	NM_015662.3(IFT172):c.2873A>C (p.His958Pro)	IFT172 (H958P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2236111	NM_015662.3(IFT172):c.2840T>G (p.Met947Arg)	IFT172 (M925R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476044	NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)	IFT172, LOC126806174 (S924A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2298413	NM_015662.3(IFT172):c.2744A>T (p.Tyr915Phe)	IFT172, LOC126806174 (Y915F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274503	NM_015662.3(IFT172):c.2693A>G (p.Lys898Arg)	IFT172, LOC126806174 (K876R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005648	NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys)	IFT172, LOC126806174 (R894C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 3285421	NM_015662.3(IFT172):c.2675G>A (p.Gly892Asp)	IFT172, LOC126806174 (G892D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403681	NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu)	IFT172, LOC126806174 (K885E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 521057	NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)	IFT172, LOC126806174 (Q866R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 1421060	NM_015662.3(IFT172):c.2578T>C (p.Trp860Arg)	LOC126806174, IFT172 (W860R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 512619	NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)	IFT172, LOC126806174 (V851L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GBenign/Likely benign
Select item 858881	NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser)	IFT172 (A805S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 1057611	NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)	IFT172 (R784Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +3 more	GUncertain significance
Select item 943505	NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)	IFT172 (R784W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 3108383	NM_015662.3(IFT172):c.2230T>C (p.Tyr744His)	IFT172 (Y722H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108382	NM_015662.3(IFT172):c.2162G>C (p.Trp721Ser)	IFT172 (W721S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025726	NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)	IFT172 (A711T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1507532	NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)	IFT172 (M627T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1043819	NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)	IFT172 (E598D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2617487	NM_015662.3(IFT172):c.1766C>A (p.Ala589Asp)	IFT172 (A589D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999506	NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)	IFT172 (D566E)	Single nucleotide variant (missense variant)	IFT172-related disorder +4 more	GUncertain significance
Select item 2109578	NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)	IFT172 (T537A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3108381	NM_015662.3(IFT172):c.1660G>A (p.Ala554Thr)	IFT172 (A554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108380	NM_015662.3(IFT172):c.1652A>G (p.Asn551Ser)	IFT172 (N529S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1062654	NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)	IFT172 (R543Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 3108379	NM_015662.3(IFT172):c.1531C>A (p.Leu511Met)	IFT172 (L511M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151053	NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)	IFT172 (R505Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2550486	NM_015662.3(IFT172):c.1455G>C (p.Glu485Asp)	IFT172 (E485D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 851128	NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)	IFT172 (V482I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 956338	NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)	IFT172 (N478D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 938102	NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg)	IFT172 (G452R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2338896	NM_015662.3(IFT172):c.1333A>C (p.Ile445Leu)	IFT172 (I445L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848052	NM_015662.3(IFT172):c.1331G>A (p.Arg444His)	IFT172 (R444H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 850164	NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)	IFT172 (P438L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GConflicting classifications of pathogenicity

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