IFT172[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1530

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 1211369	NM_173853.4(KRTCAP3):c.*61G>A	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1235989	NM_001168364.2(KRTCAP3):c.*5+256G>A	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379412	NM_015662.3(IFT172):c.*2T>C	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1462335	NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu)	KRTCAP3, IFT172 (Q1749E +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	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 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 1376864	NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr)	KRTCAP3, IFT172 (S1743T +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 842989	NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)	IFT172, KRTCAP3 (C1738G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1508418	NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg)	IFT172, KRTCAP3	Deletion (inframe_indel +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 2198980	NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)	IFT172, KRTCAP3 (S1713N +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1349296	NM_015662.3(IFT172):c.5188G>A (p.Val1730Met)	IFT172, KRTCAP3 (V1730M +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 707015	NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 968014	NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)	KRTCAP3, IFT172 (Q1728K +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 97022	NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172, KRTCAP3 (C1727R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GPathogenic
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 1518728	NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly)	IFT172, KRTCAP3 (S1724G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1401023	NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg)	IFT172, KRTCAP3 (S1724R +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
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 2193903	NM_015662.3(IFT172):c.5161-5C>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1568562	NM_015662.3(IFT172):c.5161-12A>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1529224	NM_015662.3(IFT172):c.5161-20G>A	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GBenign/Likely benign
Select item 1268593	NM_015662.3(IFT172):c.5161-140CAAA[3]	IFT172, KRTCAP3	Microsatellite (intron variant)	not provided	GBenign
Select item 1248200	NM_015662.3(IFT172):c.5160+62dup	IFT172, KRTCAP3	Duplication (intron variant)	not provided	GBenign
Select item 2063221	NM_015662.3(IFT172):c.5160+16T>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2086148	NM_015662.3(IFT172):c.5160+15C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2158636	NM_015662.3(IFT172):c.5160+12_5160+14del	IFT172, KRTCAP3	Microsatellite (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2107326	NM_015662.3(IFT172):c.5160+14A>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1624051	NM_015662.3(IFT172):c.5160+13G>A	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1350543	NM_015662.3(IFT172):c.5160+6A>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 956241	NM_015662.3(IFT172):c.5160+5G>A	KRTCAP3, IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	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 1040299	NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg)	KRTCAP3, IFT172 (K1720R +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
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 968095	NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)	IFT172, KRTCAP3 (M1717L +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
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 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 221929	NM_015662.3(IFT172):c.5133del (p.Trp1712fs)	IFT172, KRTCAP3 (W1712fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1007656	NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)	KRTCAP3, IFT172 (D1710N +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related condition +2 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 2148841	NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)	IFT172, KRTCAP3 (A1707V +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +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)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1553366	NM_015662.3(IFT172):c.5106G>A (p.Arg1702=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1899315	NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)	IFT172, KRTCAP3 (R1702Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1382803	NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)	IFT172, KRTCAP3 (R1702W +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
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 1984617	NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 2100417	NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)	IFT172, KRTCAP3 (L1672V +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1067864	NM_015662.3(IFT172):c.5069-2A>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 1044431	NM_015662.3(IFT172):c.5069-3C>T	KRTCAP3, IFT172	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1949834	NM_015662.3(IFT172):c.5069-20C>A	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1976856	NM_015662.3(IFT172):c.5068+14C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1511577	NM_015662.3(IFT172):c.5068+3A>G	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1002877	NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)	IFT172, KRTCAP3 (G1690R +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related condition +2 more	GUncertain significance
Select item 567846	NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)	IFT172, KRTCAP3 (L1687F +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 condition +2 more	GUncertain significance
Select item 1100509	NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1613067	NM_015662.3(IFT172):c.5049C>G (p.Ala1683=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 836762	NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)	KRTCAP3, IFT172 (R1682Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1935995	NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)	IFT172, KRTCAP3 (R1682G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1455123	NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)	IFT172, KRTCAP3 (R1682* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GPathogenic/Likely pathogenic
Select item 1426065	NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile)	IFT172, KRTCAP3 (V1681I +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1512056	NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser)	IFT172, KRTCAP3 (T1679S +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 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 1002314	NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)	IFT172, KRTCAP3 (S1678N +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 759961	NM_015662.3(IFT172):c.5031G>A (p.Ala1677=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1003778	NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser)	IFT172, KRTCAP3 (A1677S +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1494768	NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala)	IFT172, KRTCAP3 (V1675A +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 2060654	NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)	IFT172, KRTCAP3 (S1651F +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1392004	NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly)	IFT172, KRTCAP3 (A1672G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1082322	NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 1423606	NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)	KRTCAP3, IFT172 (A1669T +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +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)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 834486	NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)	IFT172, KRTCAP3 (R1667C +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1388067	NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp)	IFT172, KRTCAP3 (E1666D +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1405644	NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly)	IFT172, KRTCAP3 (E1666G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 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 condition +3 more	GUncertain significance
Select item 964187	NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)	IFT172, KRTCAP3 (R1664Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 542659	NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp)	IFT172, KRTCAP3 (R1664W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1042137	NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu)	IFT172, KRTCAP3 (P1663L +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1379644	NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)	KRTCAP3, IFT172 (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 1360956	NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln)	IFT172, KRTCAP3 (E1659Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 2131410	NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)	IFT172, KRTCAP3 (Q1634* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
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 condition	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)	IFT172-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1587305	NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 1011298	NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys)	IFT172, KRTCAP3 (W1648C +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance
Select item 1360420	NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)	IFT172, KRTCAP3	Deletion (inframe_deletion +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1001774	NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)	KRTCAP3, IFT172 (R1646Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GUncertain significance
Select item 2927908	NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)	IFT172, KRTCAP3 (R1646* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GPathogenic
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 condition	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)	not provided +3 more	GBenign/Likely benign
Select item 97023	NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)	IFT172, KRTCAP3 (R1642fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 71 +2 more	GPathogenic
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 959698	NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys)	IFT172, KRTCAP3 (E1641K +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GUncertain significance

<< First< Prev

Page of 16