"PreventionGenetics, part of Exact Sciences"[submitter] AND "IFT172"[g - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058325	NM_015662.3(IFT172):c.5137A>G (p.Asn1713Asp)	IFT172, KRTCAP3 (N1691D +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 1007656	NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)	KRTCAP3, IFT172 (D1710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1120654	NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)	IFT172, KRTCAP3 (N1708K +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GLikely benign
Select item 2185530	NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)	IFT172, KRTCAP3 (I1676T +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1044431	NM_015662.3(IFT172):c.5069-3C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	IFT172-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1002877	NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)	KRTCAP3, IFT172 (G1690R +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1461096	NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)	IFT172, KRTCAP3 (P1685S +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +2 more	GUncertain significance
Select item 1054216	NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)	IFT172, KRTCAP3 (R1667H +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +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)	IFT172-related disorder +4 more	GUncertain significance
Select item 1379644	NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)	IFT172, KRTCAP3 (V1661I +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2634421	NM_015662.3(IFT172):c.4964A>G (p.Asp1655Gly)	IFT172, KRTCAP3 (D1633G +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 843644	NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)	IFT172, KRTCAP3 (M1654V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GConflicting classifications of pathogenicity
Select item 2629012	NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala)	IFT172, KRTCAP3 (V1623A +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 772582	NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile)	IFT172, KRTCAP3 (V1645I +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +3 more	GBenign/Likely benign
Select item 1408653	NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)	IFT172, KRTCAP3 (V1637I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1593945	NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1036167	NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)	KRTCAP3, IFT172 (T1623A +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +3 more	GUncertain significance
Select item 3030898	NM_015662.3(IFT172):c.4819A>G (p.Ile1607Val)	IFT172, KRTCAP3 (I1585V +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 1595311	NM_015662.3(IFT172):c.4816-6C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1101378	NM_015662.3(IFT172):c.4816-8T>C	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 772893	NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)	IFT172, KRTCAP3 (R1599C +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3040017	NM_015662.3(IFT172):c.4696C>T (p.Arg1566Cys)	IFT172, KRTCAP3 (R1544C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 2179214	NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1658066	NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	IFT172-related disorder +2 more	GLikely benign
Select item 451341	NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	KRTCAP3, IFT172 (V1556M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1637550	NM_015662.3(IFT172):c.4629G>A (p.Thr1543=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 972285	NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)	IFT172 (Y1541C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1432136	NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)	IFT172 (A1538T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 1107886	NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)	IFT172 (F1531L)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GLikely benign
Select item 938111	NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)	IFT172 (E1530K)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GUncertain significance
Select item 451286	NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)	IFT172 (E1522K)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1128185	NM_015662.3(IFT172):c.4539+10C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1359208	NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)	IFT172 (E1498K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GUncertain significance
Select item 1136334	NM_015662.3(IFT172):c.4407C>T (p.His1469=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 842448	NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)	IFT172 (R1455W)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1136670	NM_015662.3(IFT172):c.4312-10C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1393483	NM_015662.3(IFT172):c.4311+5T>C	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 1137643	NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GLikely benign
Select item 1005129	NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)	IFT172 (D1428E)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 767174	NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)	IFT172 (G1425D)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3054817	NM_015662.3(IFT172):c.4260G>C (p.Leu1420=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder	GLikely benign
Select item 1189104	NM_015662.3(IFT172):c.4248T>C (p.Ala1416=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GLikely benign
Select item 864375	NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)	IFT172 (G1404S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 641124	NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)	IFT172 (Q1403H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GConflicting classifications of pathogenicity
Select item 2628995	NM_015662.3(IFT172):c.4183C>A (p.His1395Asn)	IFT172 (H1373N +1 more)	Single nucleotide variant (missense variant)	IFT172-related disorder	GUncertain significance
Select item 2142123	NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)	IFT172 (D1371N +1 more)	Single nucleotide variant (missense variant)	IFT172-related disorder +2 more	GUncertain significance
Select item 542658	NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)	IFT172 (E1383K)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1396457	NM_015662.3(IFT172):c.4136G>A (p.Arg1379His)	IFT172 (R1379H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2417143	NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 723085	NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)	IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +3 more	GLikely benign
Select item 1306301	NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile)	IFT172 (V1335I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 962430	NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)	IFT172 (R1330H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 731205	NM_015662.3(IFT172):c.3987A>G (p.Gln1329=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 1591034	NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related disorder +3 more	GLikely benign
Select item 1428793	NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)	IFT172, LOC126806173 (A1311V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1560908	NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related disorder +3 more	GLikely benign
Select item 1003235	NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp)	IFT172, LOC126806173 (A1289D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1020285	NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)	IFT172, LOC126806173 (R1284Q)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GUncertain significance
Select item 1002102	NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)	IFT172, LOC126806173 (G1275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2050615	NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)	IFT172, LOC126806173 (K1249N +1 more)	Single nucleotide variant (missense variant)	IFT172-related disorder +2 more	GUncertain significance
Select item 714370	NM_015662.3(IFT172):c.3807T>C (p.Thr1269=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1039422	NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)	IFT172, LOC126806173 (E1258K)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GUncertain significance
Select item 745837	NM_015662.3(IFT172):c.3771G>A (p.Leu1257=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related disorder +1 more	GLikely benign
Select item 1305227	NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1353732	NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)	LOC126806173, IFT172 (R1247C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1005045	NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)	IFT172, LOC126806173 (S1243I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +3 more	GUncertain significance
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)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 3045748	NM_015662.3(IFT172):c.3631T>C (p.Leu1211=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related disorder	GLikely benign
Select item 1099499	NM_015662.3(IFT172):c.3615A>G (p.Gly1205=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 2634048	NM_015662.3(IFT172):c.3598G>T (p.Ala1200Ser)	IFT172, LOC126806173 (A1178S +1 more)	Single nucleotide variant (missense variant)	IFT172-related disorder	GUncertain significance
Select item 1168704	NM_015662.3(IFT172):c.3594T>C (p.Ser1198=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GBenign/Likely benign
Select item 1628843	NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GLikely benign
Select item 843450	NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)	IFT172, LOC126806173 (H1180Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +5 more	GUncertain significance
Select item 3060245	NM_015662.3(IFT172):c.3530+9C>A	IFT172, LOC126806173	Single nucleotide variant (intron variant)	IFT172-related disorder	GLikely benign
Select item 2194609	NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)	IFT172, LOC126806173 (V1153I +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 509486	NM_015662.3(IFT172):c.3489T>G (p.Ala1163=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +1 more	GLikely benign
Select item 1164113	NM_015662.3(IFT172):c.3474C>T (p.Phe1158=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GBenign/Likely benign
Select item 1638084	NM_015662.3(IFT172):c.3466-13TC[2]	IFT172	Microsatellite (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 808718	NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)	IFT172 (H1145Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1100196	NM_015662.3(IFT172):c.3426C>T (p.Pro1142=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 1010018	NM_015662.3(IFT172):c.3372-3C>T	IFT172	Single nucleotide variant (intron variant)	IFT172-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 387419	NM_015662.3(IFT172):c.3357C>T (p.His1119=)	IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +3 more	GBenign/Likely benign
Select item 853137	NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)	IFT172 (V1090M)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1625877	NM_015662.3(IFT172):c.3229-4A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 2632543	NM_015662.3(IFT172):c.3213G>A (p.Trp1071Ter)	IFT172 (W1049* +1 more)	Single nucleotide variant (nonsense)	IFT172-related disorder	GLikely pathogenic
Select item 772154	NM_015662.3(IFT172):c.3186G>A (p.Val1062=)	IFT172	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1010990	NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)	IFT172 (A1060T)	Single nucleotide variant (missense variant)	IFT172-related disorder +4 more	GUncertain significance
Select item 742392	NM_015662.3(IFT172):c.3159C>T (p.Leu1053=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 451342	NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)	IFT172 (P1025A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3033007	NM_015662.3(IFT172):c.3069C>T (p.His1023=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder	GLikely benign
Select item 2141374	NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1496822	NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)	IFT172 (H1010Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 953338	NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)	IFT172 (L1002H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2107810	NM_015662.3(IFT172):c.2994A>C (p.Gln998His)	IFT172 (Q976H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 2933619	NM_015662.3(IFT172):c.2985G>A (p.Val995=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 933834	NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)	IFT172 (G985S)	Single nucleotide variant (missense variant)	IFT172-related disorder +5 more	GUncertain significance
Select item 2028790	NM_015662.3(IFT172):c.2883G>A (p.Ala961=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related disorder +2 more	GLikely benign
Select item 3052362	NM_015662.3(IFT172):c.2882C>T (p.Ala961Val)	IFT172 (A939V +1 more)	Single nucleotide variant (missense variant)	IFT172-related disorder	GUncertain significance
Select item 1362201	NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)	IFT172 (Q956*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 3