112752[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 314460	NM_003239.5(TGFB3):c.-543T>A	IFT43, TGFB3	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia +1 more	GLikely benign
Select item 314462	NM_003239.5(TGFB3):c.-614C>T	IFT43, TGFB3	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia +2 more	GBenign/Likely benign
Select item 1452113	NM_001102564.3(IFT43):c.1A>C (p.Met1Leu)	IFT43 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 31098	NM_001102564.3(IFT43):c.1A>G (p.Met1Val)	IFT43 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 488649	NM_001102564.3(IFT43):c.2T>A (p.Met1Lys)	IFT43 (M1K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 446692	NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)	IFT43 (D3G)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 1092819	NM_001102564.3(IFT43):c.9T>C (p.Asp3=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525543	NM_001102564.3(IFT43):c.10T>A (p.Leu4Met)	IFT43 (L4M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012352	NM_001102564.3(IFT43):c.15C>T (p.Leu5=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944265	NM_001102564.3(IFT43):c.16G>T (p.Asp6Tyr)	IFT43 (D6Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807149	NM_001102564.3(IFT43):c.16G>C (p.Asp6His)	IFT43 (D6H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 81 +4 more	GUncertain significance
Select item 2121397	NM_001102564.3(IFT43):c.19T>A (p.Leu7Met)	IFT43 (L7M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1477997	NM_001102564.3(IFT43):c.20T>C (p.Leu7Ser)	IFT43 (L7S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 314466	NM_001102564.3(IFT43):c.21G>A (p.Leu7=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	IFT43-related condition +1 more	GLikely benign
Select item 161790	NM_001102564.3(IFT43):c.21G>T (p.Leu7Phe)	IFT43 (L7F)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2132706	NM_001102564.3(IFT43):c.22G>T (p.Asp8Tyr)	IFT43 (D8Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1141861	NM_001102564.3(IFT43):c.24C>T (p.Asp8=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 943134	NM_001102564.3(IFT43):c.24C>A (p.Asp8Glu)	IFT43 (D8E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 968952	NM_001102564.3(IFT43):c.25G>T (p.Glu9Ter)	IFT43 (E9*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1371648	NM_001102564.3(IFT43):c.26A>T (p.Glu9Val)	IFT43 (E9V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 857260	NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly)	IFT43 (E10G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964917	NM_001102564.3(IFT43):c.30G>T (p.Glu10Asp)	IFT43 (E10D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1486763	NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe)	IFT43 (L11F)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1510551	NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys)	IFT43 (R12C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 854376	NM_001102564.3(IFT43):c.34C>A (p.Arg12Ser)	IFT43 (R12S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1957018	NM_001102564.3(IFT43):c.36C>T (p.Arg12=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1642286	NM_001102564.3(IFT43):c.39C>T (p.Tyr13=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	IFT43-related condition +1 more	GLikely benign
Select item 1585880	NM_001102564.3(IFT43):c.51C>T (p.Thr17=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070174	NM_001102564.3(IFT43):c.54+2T>A	IFT43	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1674568	NM_001102564.3(IFT43):c.54+14C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627707	NM_001102564.3(IFT43):c.54+15G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164163	NM_001102564.3(IFT43):c.54+15G>T	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GBenign
Select item 2781685	NM_001102564.3(IFT43):c.54+16G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773224	NM_001102564.3(IFT43):c.54+19G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630070	NM_001102564.3(IFT43):c.54+19G>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643254	NM_001102564.3(IFT43):c.54+20C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165682	NM_001102564.3(IFT43):c.55-17T>C	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GBenign
Select item 1164158	NM_001102564.3(IFT43):c.55-15T>A	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1574675	NM_001102564.3(IFT43):c.55-9T>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985974	NM_001102564.3(IFT43):c.55-4A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1038270	NM_001102564.3(IFT43):c.70C>T (p.Arg24Cys)	IFT43 (R24C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011366	NM_001102564.3(IFT43):c.71G>A (p.Arg24His)	IFT43 (R24H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 558754	NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)	IFT43 (R25*)	Single nucleotide variant (nonsense +1 more)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 954312	NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)	IFT43 (A31P)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 314467	NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)	IFT43 (A31V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1994409	NM_001102564.3(IFT43):c.93G>C (p.Ala31=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1646378	NM_001102564.3(IFT43):c.93G>A (p.Ala31=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 834416	NM_001102564.3(IFT43):c.98C>A (p.Ala33Asp)	IFT43 (A33D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1605699	NM_001102564.3(IFT43):c.99C>T (p.Ala33=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 489395	NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys)	IFT43 (E34K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 81 +1 more	GConflicting classifications of pathogenicity
Select item 1035347	NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser)	IFT43 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127277	NM_001102564.3(IFT43):c.112A>G (p.Asn38Asp)	IFT43 (N38D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001980	NM_001102564.3(IFT43):c.125C>T (p.Ser42Phe)	IFT43 (S42F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1063214	NM_001102564.3(IFT43):c.136_141del (p.44LT[1])	IFT43	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2135504	NM_001102564.3(IFT43):c.136_137del (p.Leu46fs)	IFT43 (L46fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 314468	NM_001102564.3(IFT43):c.136C>T (p.Leu46=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 751847	NM_001102564.3(IFT43):c.138G>C (p.Leu46=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1015711	NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu)	IFT43 (G48E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1374972	NM_001102564.3(IFT43):c.147+4G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2802456	NM_001102564.3(IFT43):c.147+7G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761396	NM_001102564.3(IFT43):c.147+9T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725757	NM_001102564.3(IFT43):c.147+18dup	IFT43	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1170429	NM_001102564.3(IFT43):c.147+18del	IFT43	Deletion (intron variant)	not provided	GBenign
Select item 1669877	NM_001102564.3(IFT43):c.147+20A>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216489	NM_001102564.3(IFT43):c.148-120C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292189	NM_001102564.3(IFT43):c.148-119A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189506	NM_001102564.3(IFT43):c.148-65A>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314469	NM_001102564.3(IFT43):c.148-15T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547205	NM_001102564.3(IFT43):c.148-14C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513672	NM_001102564.3(IFT43):c.148-2A>C	IFT43	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3011045	NM_001102564.3(IFT43):c.162A>G (p.Lys54=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1165952	NM_001102564.3(IFT43):c.169C>T (p.Arg57Cys)	IFT43 (R57C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1962329	NM_001102564.3(IFT43):c.170G>T (p.Arg57Leu)	IFT43 (R57L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1498439	NM_001102564.3(IFT43):c.170G>A (p.Arg57His)	IFT43 (R57H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800472	NM_001102564.3(IFT43):c.174C>T (p.Cys58=)	IFT43	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1074375	NM_001102564.3(IFT43):c.174_175delinsAT (p.Cys58_Arg59delinsTer)	IFT43	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 1391766	NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)	IFT43 (R59Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2695696	NM_001102564.3(IFT43):c.180G>A (p.Gln60=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413811	NM_001102564.3(IFT43):c.184G>T (p.Gly62Cys)	IFT43 (G62C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 708954	NM_001102564.3(IFT43):c.195T>A (p.Gly65=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 1089443	NM_001102564.3(IFT43):c.201C>T (p.Ser67=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2876916	NM_001102564.3(IFT43):c.202G>A (p.Val68Met)	IFT43 (V68M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717372	NM_001102564.3(IFT43):c.208G>C (p.Ala70Pro)	IFT43 (A70P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908518	NM_001102564.3(IFT43):c.214A>C (p.Lys72Gln)	IFT43 (N72H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 631717	NM_001102564.3(IFT43):c.214_215+2del	IFT43	Deletion (splice donor variant)	Cranioectodermal dysplasia 3	GUncertain significance
Select item 2957966	NM_001102564.3(IFT43):c.215+9C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694198	NM_001102564.3(IFT43):c.215+12C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946149	NM_001102564.3(IFT43):c.215+18A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945112	NM_001102564.3(IFT43):c.215+20A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195138	NM_001102564.3(IFT43):c.215+134A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280189	NM_001102564.3(IFT43):c.215+215C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234630	NM_001102564.3(IFT43):c.216-192G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign

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