Related gene-specific medical variations for Gene (Select 150709) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207148	NM_022353.3(OSGEPL1):c.377T>C (p.Val126Ala)	ANKAR, OSGEPL1 (V126A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207147	NM_022353.3(OSGEPL1):c.1111C>G (p.Leu371Val)	ANKAR, OSGEPL1 (L371V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207146	NM_022353.3(OSGEPL1):c.1003A>G (p.Arg335Gly)	ANKAR, OSGEPL1 (R188G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600015	NM_022353.3(OSGEPL1):c.877A>G (p.Met293Val)	ANKAR, OSGEPL1 (M293V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509585	NM_022353.3(OSGEPL1):c.376G>A (p.Val126Met)	ANKAR, OSGEPL1 (V126M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490802	NM_022353.3(OSGEPL1):c.865G>A (p.Val289Ile)	ANKAR, OSGEPL1 (V142I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487911	NM_022353.3(OSGEPL1):c.521A>C (p.His174Pro)	ANKAR, OSGEPL1 (H174P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486142	NM_022353.3(OSGEPL1):c.982G>A (p.Ala328Thr)	ANKAR, OSGEPL1 (A328T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373494	NM_022353.3(OSGEPL1):c.970T>G (p.Ser324Ala)	ANKAR, OSGEPL1 (S125A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354212	NM_022353.3(OSGEPL1):c.124A>T (p.Ile42Phe)	ANKAR, OSGEPL1 (I42F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2286149	NM_022353.3(OSGEPL1):c.311T>A (p.Val104Asp)	ANKAR, OSGEPL1 (V104D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278862	NM_022353.3(OSGEPL1):c.653C>A (p.Thr218Asn)	ANKAR, OSGEPL1 (T19N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275912	NM_022353.3(OSGEPL1):c.496T>A (p.Leu166Ile)	ANKAR, OSGEPL1 (L166I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259616	NM_022353.3(OSGEPL1):c.457C>T (p.Leu153Phe)	ANKAR, OSGEPL1 (L153F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239676	NM_022353.3(OSGEPL1):c.1105G>C (p.Glu369Gln)	ANKAR, OSGEPL1 (E170Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238228	NM_022353.3(OSGEPL1):c.908G>A (p.Arg303Gln)	ANKAR, OSGEPL1 (R104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214385	NM_022353.3(OSGEPL1):c.38A>T (p.Lys13Ile)	ANKAR, OSGEPL1 (K13I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1206187	NM_022353.3(OSGEPL1):c.575C>G (p.Ser192Cys)	ANKAR, OSGEPL1 (S192C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 774411	NM_022353.3(OSGEPL1):c.1133dup (p.Leu378fs)	ANKAR, OSGEPL1 (L179fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely benign
Select item 724337	NM_022353.3(OSGEPL1):c.681T>C (p.His227=)	ANKAR, OSGEPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714135	NM_022353.3(OSGEPL1):c.79A>C (p.Asn27His)	ANKAR, OSGEPL1 (N27H)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign

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Links from Gene

Items: 21