"Dept Of Ophthalmology, Nagoya University"[submitter] AND "IFT172"[gen - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379412	NM_015662.3(IFT172):c.*2T>C	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 3028787	NM_015662.3(IFT172):c.5236T>C (p.Phe1746Leu)	IFT172, KRTCAP3 (F1724L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 707015	NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1382803	NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)	IFT172, KRTCAP3 (R1702W +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	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 1587305	NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 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 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 3028790	NM_015662.3(IFT172):c.4715C>G (p.Pro1572Arg)	IFT172, KRTCAP3 (P1550R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1671131	NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)	IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GConflicting classifications of pathogenicity
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 3028791	NM_015662.3(IFT172):c.4398T>G (p.Tyr1466Ter)	IFT172 (Y1444* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
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 842448	NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)	IFT172 (R1455W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 719104	NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)	IFT172 (V1410L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1401879	NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys)	IFT172 (E1370K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 379411	NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)	LOC126806173, IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +4 more	GBenign
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 221925	NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)	IFT172, LOC126806173 (R1294C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3028793	NM_015662.3(IFT172):c.3699C>T (p.Leu1233=)	LOC126806173, IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 1476204	NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)	LOC126806173, IFT172 (R1208W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 3028794	NM_015662.3(IFT172):c.3603G>A (p.Glu1201=)	LOC126806173, IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
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 961818	NM_015662.3(IFT172):c.3566G>A (p.Arg1189His)	IFT172, LOC126806173 (R1189H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 2153647	NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)	IFT172 (E1137K +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	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 853137	NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)	IFT172 (V1090M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +5 more	GConflicting classifications of pathogenicity
Select item 3028796	NM_015662.3(IFT172):c.3229-1G>C	IFT172	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 2427777	NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)	IFT172 (A1019T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	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 1959672	NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)	IFT172 (R931G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 379641	NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln)	LOC126806174, IFT172 (R908Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 863878	NM_015662.3(IFT172):c.2681G>A (p.Arg894His)	IFT172, LOC126806174 (R894H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	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 838270	NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)	IFT172, LOC126806174 (A890T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +5 more	GUncertain significance
Select item 938716	NM_015662.3(IFT172):c.2660T>C (p.Ile887Thr)	IFT172, LOC126806174 (I887T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
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 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 860905	NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)	IFT172, LOC126806174 (A841V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 767215	NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln)	IFT172 (R755Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GLikely benign
Select item 869114	NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)	IFT172 (H719Y)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1361895	NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)	IFT172 (R672W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	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 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 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 1127215	NM_015662.3(IFT172):c.1731C>T (p.Thr577=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1121359	NM_015662.3(IFT172):c.1678A>G (p.Met560Val)	IFT172 (M560V)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GLikely benign
Select item 849493	NM_015662.3(IFT172):c.1523G>A (p.Arg508His)	IFT172 (R508H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
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 1478308	NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg)	IFT172 (G415R)	Single nucleotide variant (missense variant)	IFT172-related disorder +5 more	GUncertain significance
Select item 2927474	NM_015662.3(IFT172):c.1144C>T (p.Leu382=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 392732	NM_015662.3(IFT172):c.915A>G (p.Thr305=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 955756	NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)	IFT172 (R236C)	Single nucleotide variant (missense variant)	IFT172-related disorder +5 more	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 1110946	NM_015662.3(IFT172):c.591G>A (p.Pro197=)	IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 3028805	NM_015662.3(IFT172):c.571-1G>A	IFT172	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 1053110	NM_015662.3(IFT172):c.357A>G (p.Gln119=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3028806	NM_015662.3(IFT172):c.273T>C (p.Tyr91=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 942864	NM_015662.3(IFT172):c.202A>G (p.Met68Val)	IFT172 (M68V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61