THOC5[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2365172	NM_003678.5(THOC5):c.1997G>A (p.Ser666Asn)	THOC5 (S666N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790774	NM_003678.5(THOC5):c.1782C>T (p.Asn594=)	THOC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177093	NM_003678.5(THOC5):c.1770A>T (p.Lys590Asn)	THOC5 (K590N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539011	NM_003678.5(THOC5):c.1642A>G (p.Thr548Ala)	THOC5 (T548A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782635	NM_003678.5(THOC5):c.1567G>A (p.Val523Met)	THOC5 (V523M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3325934	NM_003678.5(THOC5):c.1553G>A (p.Arg518His)	THOC5 (R518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177092	NM_003678.5(THOC5):c.1456C>T (p.Arg486Cys)	THOC5 (R486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177091	NM_003678.5(THOC5):c.1426A>G (p.Met476Val)	THOC5 (M476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265317	NM_003678.5(THOC5):c.1409G>T (p.Ser470Ile)	THOC5 (S470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341291	NM_003678.5(THOC5):c.1397C>T (p.Ser466Leu)	THOC5 (S466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591390	NM_003678.5(THOC5):c.1324T>A (p.Leu442Met)	THOC5 (L442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406644	NM_003678.5(THOC5):c.1172C>T (p.Ala391Val)	THOC5 (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508837	NM_003678.5(THOC5):c.1154T>C (p.Leu385Pro)	THOC5 (L385P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308319	NM_003678.5(THOC5):c.1116C>G (p.Ile372Met)	THOC5 (I372M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509756	NM_003678.5(THOC5):c.1054C>G (p.Leu352Val)	THOC5 (L352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522536	NM_003678.5(THOC5):c.1015G>C (p.Glu339Gln)	THOC5 (E339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616025	NM_003678.5(THOC5):c.946G>C (p.Ala316Pro)	THOC5 (A316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403373	NM_003678.5(THOC5):c.871G>A (p.Glu291Lys)	THOC5 (E291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177094	NM_003678.5(THOC5):c.800C>T (p.Pro267Leu)	THOC5 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508339	NM_003678.5(THOC5):c.764A>G (p.His255Arg)	THOC5 (H255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491075	NM_003678.5(THOC5):c.760G>A (p.Ala254Thr)	THOC5 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325935	NM_003678.5(THOC5):c.749C>T (p.Pro250Leu)	THOC5 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520195	NM_003678.5(THOC5):c.538A>G (p.Met180Val)	THOC5 (M180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541690	NM_003678.5(THOC5):c.474T>A (p.Asp158Glu)	THOC5 (D158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325936	NM_003678.5(THOC5):c.35A>G (p.Lys12Arg)	THOC5 (K12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25