Related gene-specific medical variations for Gene (Select 23617) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329713	NM_053006.5(TSSK2):c.133C>T (p.Arg45Cys)	ESS2, TSSK2 (R45C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329712	NM_053006.5(TSSK2):c.109A>G (p.Asn37Asp)	ESS2, TSSK2 (N37D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183971	NM_053006.5(TSSK2):c.98G>A (p.Arg33His)	ESS2, TSSK2 (R33H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183970	NM_053006.5(TSSK2):c.893A>G (p.Lys298Arg)	ESS2, TSSK2 (K298R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183969	NM_053006.5(TSSK2):c.881G>A (p.Arg294His)	ESS2, TSSK2 (R294H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183968	NM_053006.5(TSSK2):c.864G>C (p.Glu288Asp)	ESS2, TSSK2 (E288D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183967	NM_053006.5(TSSK2):c.479G>A (p.Arg160His)	ESS2, TSSK2 (R160H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183966	NM_053006.5(TSSK2):c.181A>G (p.Met61Val)	ESS2, TSSK2 (M61V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183965	NM_053006.5(TSSK2):c.133C>A (p.Arg45Ser)	ESS2, TSSK2 (R45S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183964	NM_053006.5(TSSK2):c.1037A>G (p.His346Arg)	ESS2, TSSK2 (H346R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618729	NM_053006.5(TSSK2):c.632G>A (p.Cys211Tyr)	ESS2, TSSK2 (C211Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599949	NM_053006.5(TSSK2):c.575A>C (p.Tyr192Ser)	ESS2, TSSK2 (Y192S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553733	NM_053006.5(TSSK2):c.935A>C (p.Asp312Ala)	ESS2, TSSK2 (D312A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522259	NM_053006.5(TSSK2):c.658G>A (p.Asp220Asn)	ESS2, TSSK2 (D220N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507644	NM_053006.5(TSSK2):c.965G>A (p.Arg322Gln)	ESS2, TSSK2 (R322Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487237	NM_053006.5(TSSK2):c.742C>T (p.Leu248Phe)	ESS2, TSSK2 (L248F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454899	NM_053006.5(TSSK2):c.40G>A (p.Val14Ile)	ESS2, TSSK2 (V14I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400073	NM_053006.5(TSSK2):c.541T>C (p.Tyr181His)	ESS2, TSSK2 (Y181H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375257	NM_053006.5(TSSK2):c.280G>A (p.Val94Ile)	ESS2, TSSK2 (V94I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361584	NM_053006.5(TSSK2):c.866G>C (p.Gly289Ala)	ESS2, TSSK2 (G289A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319552	NM_053006.5(TSSK2):c.1048G>A (p.Gly350Arg)	ESS2, TSSK2 (G350R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319331	NM_053006.5(TSSK2):c.187A>G (p.Ile63Val)	ESS2, TSSK2 (I63V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298454	NM_053006.5(TSSK2):c.965G>T (p.Arg322Leu)	ESS2, TSSK2 (R322L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284504	NM_053006.5(TSSK2):c.809C>T (p.Ser270Leu)	ESS2, TSSK2 (S270L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259309	NM_053006.5(TSSK2):c.924C>A (p.Asp308Glu)	ESS2, TSSK2 (D308E)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2242597	NM_053006.5(TSSK2):c.610G>A (p.Val204Met)	ESS2, TSSK2 (V204M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228879	NM_053006.5(TSSK2):c.424C>G (p.Leu142Val)	ESS2, TSSK2 (L142V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222229	NM_053006.5(TSSK2):c.197C>A (p.Thr66Asn)	ESS2, TSSK2 (T66N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222228	NM_053006.5(TSSK2):c.172C>A (p.Pro58Thr)	ESS2, TSSK2 (P58T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216730	NM_053006.5(TSSK2):c.130G>A (p.Asp44Asn)	ESS2, TSSK2 (D44N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 30