Related gene-specific medical variations for Gene (Select 347735) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317525	NM_178865.5(SERINC2):c.1214C>T (p.Thr405Met)	LOC110594336, SERINC2 (T405M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160261	NM_178865.5(SERINC2):c.913G>A (p.Glu305Lys)	LOC110594336, SERINC2 (E309K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160260	NM_178865.5(SERINC2):c.886C>A (p.Pro296Thr)	LOC110594336, SERINC2 (P241T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160253	NM_178865.5(SERINC2):c.1354C>T (p.Arg452Cys)	LOC110594336, SERINC2 (R456C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160251	NM_178865.5(SERINC2):c.1270G>A (p.Ala424Thr)	LOC110594336, SERINC2 (A424T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160250	NM_178865.5(SERINC2):c.1237G>A (p.Gly413Ser)	LOC110594336, SERINC2 (G358S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160249	NM_178865.5(SERINC2):c.1212G>A (p.Met404Ile)	LOC110594336, SERINC2 (M408I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160248	NM_178865.5(SERINC2):c.1124G>A (p.Arg375Gln)	LOC110594336, SERINC2 (R320Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638602	NM_178865.5(SERINC2):c.1263G>A (p.Thr421=)	LOC110594336, SERINC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596999	NM_178865.5(SERINC2):c.1034G>A (p.Arg345Gln)	LOC110594336, SERINC2 (R290Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596222	NM_178865.5(SERINC2):c.1147G>A (p.Gly383Ser)	LOC110594336, SERINC2 (G383S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522971	NM_178865.5(SERINC2):c.1204G>A (p.Val402Ile)	LOC110594336, SERINC2 (V406I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521080	NM_178865.5(SERINC2):c.1150G>A (p.Val384Ile)	LOC110594336, SERINC2 (V388I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367571	NM_178865.5(SERINC2):c.1019G>A (p.Arg340His)	LOC110594336, SERINC2 (R344H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359635	NM_178865.5(SERINC2):c.1142A>G (p.Gln381Arg)	LOC110594336, SERINC2 (Q326R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358821	NM_178865.5(SERINC2):c.1334C>T (p.Ala445Val)	LOC110594336, SERINC2 (A449V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323559	NM_178865.5(SERINC2):c.830A>C (p.Tyr277Ser)	LOC110594336, SERINC2 (Y222S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285414	NM_178865.5(SERINC2):c.1018C>T (p.Arg340Cys)	LOC110594336, SERINC2 (R285C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260868	NM_178865.5(SERINC2):c.1084G>A (p.Ala362Thr)	LOC110594336, SERINC2 (A307T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206139	NM_178865.5(SERINC2):c.1033C>T (p.Arg345Trp)	LOC110594336, SERINC2 (R345W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787526	NM_178865.5(SERINC2):c.888_889del (p.His297fs)	LOC110594336, SERINC2 (H242fs +3 more)	Deletion (frameshift variant)	not provided	GBenign

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Links from Gene

Items: 21