ClinVar for Gene (Select 26160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060245	NM_015662.3(IFT172):c.3530+9C>A	IFT172, LOC126806173	Single nucleotide variant (intron variant)	IFT172-related condition	GLikely benign
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 condition	GUncertain significance
Select item 3054817	NM_015662.3(IFT172):c.4260G>C (p.Leu1420=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related condition	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 condition	GUncertain significance
Select item 3050445	NM_015662.3(IFT172):c.1553C>G (p.Ser518Cys)	IFT172 (S518C)	Single nucleotide variant (missense variant +1 more)	IFT172-related condition	GUncertain significance
Select item 3047355	NM_015662.3(IFT172):c.2443-5A>T	IFT172	Single nucleotide variant (intron variant)	IFT172-related condition	GLikely benign
Select item 3045748	NM_015662.3(IFT172):c.3631T>C (p.Leu1211=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	IFT172-related condition	GLikely benign
Select item 3042974	NM_015662.3(IFT172):c.1294C>T (p.Arg432Cys)	IFT172 (R432C)	Single nucleotide variant (missense variant)	IFT172-related condition	GUncertain significance
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 condition	GUncertain significance
Select item 3033007	NM_015662.3(IFT172):c.3069C>T (p.His1023=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related condition	GLikely benign
Select item 3032571	NM_015662.3(IFT172):c.1415A>G (p.Asp472Gly)	IFT172 (D472G)	Single nucleotide variant (missense variant)	IFT172-related condition	GUncertain significance
Select item 3032106	NM_015662.3(IFT172):c.1971T>C (p.Ala657=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related condition	GLikely benign
Select item 3030898	NM_015662.3(IFT172):c.4819A>G (p.Ile1607Val)	KRTCAP3, IFT172 (I1585V +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related condition	GUncertain significance
Select item 3029374	NM_015662.3(IFT172):c.1293A>G (p.Val431=)	IFT172	Single nucleotide variant (synonymous variant)	IFT172-related condition	GLikely benign
Select item 3028939	NM_015662.3(IFT172):c.802T>G (p.Trp268Gly)	IFT172 (W268G)	Single nucleotide variant (missense variant)	IFT172-related condition	GUncertain significance
Select item 3028807	NM_015662.3(IFT172):c.4C>A (p.His2Asn)	IFT172 (H2N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028806	NM_015662.3(IFT172):c.273T>C (p.Tyr91=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028805	NM_015662.3(IFT172):c.571-1G>A	IFT172	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028804	NM_015662.3(IFT172):c.618A>G (p.Ala206=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028803	NM_015662.3(IFT172):c.1497G>T (p.Lys499Asn)	IFT172 (K499N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028802	NM_015662.3(IFT172):c.1805C>G (p.Ala602Gly)	IFT172 (A580G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028801	NM_015662.3(IFT172):c.1834A>T (p.Thr612Ser)	IFT172 (T590S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028800	NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)	IFT172 (A635T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028799	NM_015662.3(IFT172):c.2549C>T (p.Pro850Leu)	IFT172, LOC126806174 (P828L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028797	NM_015662.3(IFT172):c.2917C>G (p.Leu973Val)	IFT172 (L951V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028796	NM_015662.3(IFT172):c.3229-1G>C	IFT172	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028795	NM_015662.3(IFT172):c.3290G>A (p.Ser1097Asn)	IFT172 (S1075N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028794	NM_015662.3(IFT172):c.3603G>A (p.Glu1201=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028793	NM_015662.3(IFT172):c.3699C>T (p.Leu1233=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028792	NM_015662.3(IFT172):c.4369G>C (p.Gly1457Arg)	IFT172 (G1435R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028791	NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter)	IFT172 (Y1444* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028790	NM_015662.3(IFT172):c.4715C>G (p.Pro1572Arg)	KRTCAP3, IFT172 (P1550R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028789	NM_015662.3(IFT172):c.4925G>C (p.Arg1642Thr)	IFT172, KRTCAP3 (R1620T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028788	NM_015662.3(IFT172):c.5033G>C (p.Ser1678Thr)	IFT172, KRTCAP3 (S1656T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028787	NM_015662.3(IFT172):c.5236T>C (p.Phe1746Leu)	KRTCAP3, IFT172 (F1724L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2953843	NM_015662.3(IFT172):c.4429-178_4436del	IFT172	Deletion (splice acceptor variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 2952876	NM_015662.3(IFT172):c.1692+18G>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2952735	NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2952582	NM_015662.3(IFT172):c.910-20G>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2952482	NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)	KRTCAP3, IFT172	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2952034	NM_015662.3(IFT172):c.2896A>C (p.Arg966=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2950877	NM_015662.3(IFT172):c.2214G>A (p.Lys738=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2950609	NM_015662.3(IFT172):c.1722G>C (p.Gly574=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2950550	NM_015662.3(IFT172):c.1050G>A (p.Lys350=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2950543	NM_015662.3(IFT172):c.984G>A (p.Leu328=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2949884	NM_001168364.2(KRTCAP3):c.5+455_5+465del	IFT172, KRTCAP3	Deletion (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
Select item 2949058	NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2949033	NM_015662.3(IFT172):c.2112A>G (p.Glu704=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2948941	NM_015662.3(IFT172):c.2194-8A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2948786	NM_015662.3(IFT172):c.1053A>G (p.Ser351=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2948556	NM_015662.3(IFT172):c.875del (p.Leu292fs)	IFT172 (L292fs)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
Select item 2948349	NM_015662.3(IFT172):c.785+16A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2948118	NM_015662.3(IFT172):c.1938-15G>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2948003	NM_015662.3(IFT172):c.3111+7C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2947854	NM_015662.3(IFT172):c.4050+9del	IFT172	Deletion (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2947160	NM_015662.3(IFT172):c.726G>A (p.Glu242=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946620	NM_015662.3(IFT172):c.4851C>T (p.His1617=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946400	NM_015662.3(IFT172):c.2194-9C>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946358	NM_015662.3(IFT172):c.1830-8C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946256	NM_015662.3(IFT172):c.3530+20C>A	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946244	NM_015662.3(IFT172):c.1614G>A (p.Leu538=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946243	NM_015662.3(IFT172):c.2976-16G>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2946209	NM_015662.3(IFT172):c.482+9A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2945999	NM_015662.3(IFT172):c.3822-2_3822-1del	IFT172, LOC126806173	Deletion (splice acceptor variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 2945317	NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2944966	NM_015662.3(IFT172):c.2193+18T>C	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2944588	NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)	IFT172, LOC126806173 (A1210fs +1 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
Select item 2944087	NM_015662.3(IFT172):c.2023-20A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2943782	NM_015662.3(IFT172):c.2169G>A (p.Glu723=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2943771	NM_015662.3(IFT172):c.1692+9G>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2943467	NM_015662.3(IFT172):c.3712-2A>T	IFT172, LOC126806173	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 2942798	NM_015662.3(IFT172):c.1006-14T>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2941978	NM_015662.3(IFT172):c.387A>G (p.Gly129=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2941753	NM_015662.3(IFT172):c.2642+12T>C	IFT172, LOC126806174	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2941557	NM_015662.3(IFT172):c.1326-1G>A	IFT172	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 2941555	NM_015662.3(IFT172):c.756C>G (p.Gly252=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2941237	NM_015662.3(IFT172):c.978dup (p.Glu327Ter)	IFT172 (E327*)	Duplication (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
Select item 2941169	NM_015662.3(IFT172):c.5161-5C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2940848	NM_015662.3(IFT172):c.2544C>G (p.Ala848=)	IFT172, LOC126806174	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2940847	NM_015662.3(IFT172):c.3822-8C>T	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2940337	NM_015662.3(IFT172):c.2642+11A>T	IFT172, LOC126806174	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2940306	NM_015662.3(IFT172):c.4312-4dup	IFT172	Duplication (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2940269	NM_015662.3(IFT172):c.2521+15T>A	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939792	NM_015662.3(IFT172):c.2592G>A (p.Leu864=)	IFT172, LOC126806174	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939728	NM_015662.3(IFT172):c.910-8C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939628	NM_015662.3(IFT172):c.4756-13T>C	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939565	NM_015662.3(IFT172):c.1485G>A (p.Glu495=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939546	NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939421	NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939407	NM_015662.3(IFT172):c.3371+20C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2939396	NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)	IFT172, LOC126806173 (Q1166* +1 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
Select item 2939355	NM_015662.3(IFT172):c.2193+16T>C	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2938832	NM_015662.3(IFT172):c.2788-20C>T	IFT172, LOC126806174	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2938362	NM_015662.3(IFT172):c.3821+11A>T	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2938099	NM_015662.3(IFT172):c.3465+8T>C	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2937805	NM_015662.3(IFT172):c.813A>G (p.Arg271=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2937696	NM_015662.3(IFT172):c.2430A>G (p.Glu810=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2937667	NM_015662.3(IFT172):c.1521T>C (p.Leu507=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2937626	NM_015662.3(IFT172):c.4161-10A>G	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2937623	NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)	IFT172 (E715* +1 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic

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