"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC105371 - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631767	NM_014714.4(IFT140):c.1500_1503del (p.Asn500fs)	IFT140, LOC105371046 (N500fs)	Deletion (frameshift variant)	IFT140-related disorder	GLikely pathogenic
Select item 1071413	NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)	IFT140, LOC105371046 (R501*)	Single nucleotide variant (nonsense)	IFT140-related disorder +1 more	GPathogenic
Select item 2053726	NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)	IFT140, LOC105371046 (N500D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 580815	NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	LOC105371046, IFT140 (W459*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 193897	NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)	LOC105371046, IFT140 (I446V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1493564	NM_014714.4(IFT140):c.1302G>A (p.Thr434=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	IFT140-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2636104	NM_014714.4(IFT140):c.1229C>T (p.Ser410Leu)	IFT140, LOC105371046 (S410L)	Single nucleotide variant (missense variant)	IFT140-related disorder	GUncertain significance
Select item 2756704	NM_014714.4(IFT140):c.1221G>C (p.Arg407=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	IFT140-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2632590	NM_014714.4(IFT140):c.1207A>G (p.Ile403Val)	IFT140, LOC105371046 (I403V)	Single nucleotide variant (missense variant)	IFT140-related disorder	GUncertain significance
Select item 1372134	NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)	IFT140, LOC105371046 (Q383*)	Single nucleotide variant (nonsense)	IFT140-related disorder +1 more	GPathogenic
Select item 3055386	NM_014714.4(IFT140):c.1015C>T (p.Leu339=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	IFT140-related disorder	GLikely benign
Select item 887295	NM_014714.4(IFT140):c.1010-10C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	IFT140-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2805980	NM_014714.4(IFT140):c.1009+10C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1955567	NM_014714.4(IFT140):c.1009+1G>T	IFT140, LOC105371046	Single nucleotide variant (splice donor variant)	Saldino-Mainzer syndrome +1 more	GLikely pathogenic
Select item 3045304	NM_014714.4(IFT140):c.902+87T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	IFT140-related disorder	GLikely benign
Select item 282935	NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)	IFT140, LOC105371046 (R253Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 318210	NM_014714.4(IFT140):c.546C>T (p.Asp182=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1451353	NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)	IFT140, LOC105371046 (E164*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +1 more	GPathogenic
Select item 575615	NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)	IFT140, LOC105371046 (P161A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318215	NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)	IFT140, LOC105371046 (R137Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +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)	Saldino-Mainzer syndrome +4 more	GUncertain significance
Select item 2630877	NM_014714.4(IFT140):c.308_309del (p.Thr103fs)	IFT140, LOC105371046 (T103fs)	Microsatellite (frameshift variant)	IFT140-related disorder	GLikely pathogenic

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Items: 22