"GeneDx"[submitter] AND "LOC105371046"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 512128	NM_014714.4(IFT140):c.1524+3A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 967795	NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg)	IFT140, LOC105371046 (S476R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 318192	NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)	IFT140, LOC105371046 (A451V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 1314603	NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys)	IFT140, LOC105371046 (R441C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129257	NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)	IFT140, LOC105371046 (V398I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 1286278	NM_014714.4(IFT140):c.1156-183A>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285925	NM_014714.4(IFT140):c.1155+223C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1016800	NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)	IFT140, LOC105371046 (R347Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GUncertain significance
Select item 280884	NM_014714.4(IFT140):c.1010-1G>A	IFT140, LOC105371046	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 80 +3 more	GPathogenic/Likely pathogenic
Select item 1294186	NM_014714.4(IFT140):c.1009+58G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 974394	NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)	IFT140, LOC105371046 (E325D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1314038	NM_014714.4(IFT140):c.910G>C (p.Asp304His)	IFT140, LOC105371046 (D304H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450986	NM_014714.4(IFT140):c.903-5T>G	LOC105371046, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 968244	NM_014714.4(IFT140):c.883G>A (p.Val295Ile)	IFT140, LOC105371046 (V295I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318201	NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)	IFT140, LOC105371046 (R280Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 318202	NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)	LOC105371046, IFT140 (R280W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 129262	NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)	IFT140, LOC105371046 (R279P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1236253	NM_014714.4(IFT140):c.811-135A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 318209	NM_014714.4(IFT140):c.635-12G>C	LOC105371046, IFT140	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1232083	NM_014714.4(IFT140):c.635-79T>A	LOC105371046, IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227630	NM_014714.4(IFT140):c.635-183C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283546	NM_014714.4(IFT140):c.634+199G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253014	NM_014714.4(IFT140):c.634+182G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31683	NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	IFT140, LOC105371046 (G212R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 318211	NM_014714.4(IFT140):c.492-14G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233926	NM_014714.4(IFT140):c.491+45G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 318213	NM_014714.4(IFT140):c.459G>T (p.Thr153=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 318215	NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)	IFT140, LOC105371046 (R137Q)	Single nucleotide variant (missense variant)	IFT140-related condition +2 more	GConflicting classifications of pathogenicity
Select item 391396	NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)	IFT140, LOC105371046 (L129W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1288611	NM_014714.4(IFT140):c.370-71A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700484	NM_014714.4(IFT140):c.334A>C (p.Ser112Arg)	IFT140, LOC105371046 (S112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314373	NM_014714.4(IFT140):c.238T>A (p.Trp80Arg)	IFT140, LOC105371046 (W80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987250	NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)	IFT140, LOC105371046 (P71L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1037357	NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)	IFT140, LOC105371046 (R60K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1185425	NM_014714.4(IFT140):c.148-22A>T	LOC105371046, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 1271274	NM_014714.4(IFT140):c.148-29T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281939	NM_014714.4(IFT140):c.148-73C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277421	NM_014714.4(IFT140):c.148-221G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234333	NM_014714.4(IFT140):c.147+192T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274345	NM_014714.4(IFT140):c.147+185G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185426	NM_014714.4(IFT140):c.147+109G>A	LOC105371046, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 1239383	NM_014714.4(IFT140):c.147+85_147+86del	IFT140, LOC105371046	Deletion (intron variant)	not provided	GBenign
Select item 2201377	NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)	IFT140, LOC105371046 (E48K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 318223	NM_014714.4(IFT140):c.-17G>C	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa 80 +2 more	GBenign
Select item 1185432	NM_014714.4(IFT140):c.-31-52T>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GBenign

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Items: 50