"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806173"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1658240	NM_015662.3(IFT172):c.3951+14G>T	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GBenign/Likely benign
Select item 1591034	NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1560908	NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
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 1068458	NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)	IFT172, LOC126806173 (E1265*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 1039422	NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)	LOC126806173, IFT172 (E1258K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1443982	NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)	IFT172, LOC126806173 (Q1256R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 848185	NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)	IFT172, LOC126806173	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1040907	NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)	LOC126806173, IFT172 (D1251V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1353732	NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)	IFT172, LOC126806173 (R1247C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1005045	NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)	LOC126806173, IFT172 (S1243I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 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 1571582	NM_015662.3(IFT172):c.3711+17A>G	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely 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 1540807	NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 1040794	NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)	IFT172, LOC126806173 (D1215N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1007667	NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)	IFT172, LOC126806173 (L1211W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1497541	NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)	IFT172, LOC126806173 (R1208P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
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 1628843	NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
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 1630084	NM_015662.3(IFT172):c.3530+11C>G	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign

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Items: 23