Related gene-specific medical variations for Gene (Select 83942) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183963	NM_032028.4(TSSK1B):c.989G>T (p.Gly330Val)	MCC, TSSK1B (G330V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183962	NM_032028.4(TSSK1B):c.769G>A (p.Val257Ile)	MCC, TSSK1B (V257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183961	NM_032028.4(TSSK1B):c.697G>A (p.Val233Ile)	MCC, TSSK1B (V233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183960	NM_032028.4(TSSK1B):c.313C>T (p.Arg105Trp)	MCC, TSSK1B (R105W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183959	NM_032028.4(TSSK1B):c.209G>A (p.Cys70Tyr)	MCC, TSSK1B (C70Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183958	NM_032028.4(TSSK1B):c.19C>T (p.Leu7Phe)	MCC, TSSK1B (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183956	NM_032028.4(TSSK1B):c.1000C>A (p.Gln334Lys)	MCC, TSSK1B (Q334K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609567	NM_032028.4(TSSK1B):c.891G>T (p.Leu297Phe)	MCC, TSSK1B (L297F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595437	NM_032028.4(TSSK1B):c.896C>A (p.Thr299Asn)	MCC, TSSK1B (T299N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483661	NM_032028.4(TSSK1B):c.1069C>T (p.Pro357Ser)	MCC, TSSK1B (P357S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474929	NM_032028.4(TSSK1B):c.739G>A (p.Asp247Asn)	MCC, TSSK1B (D247N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465391	NM_032028.4(TSSK1B):c.874C>T (p.Arg292Trp)	MCC, TSSK1B (R292W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412421	NM_032028.4(TSSK1B):c.830G>A (p.Arg277Gln)	MCC, TSSK1B (R277Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407144	NM_032028.4(TSSK1B):c.586G>A (p.Val196Met)	MCC, TSSK1B (V196M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397209	NM_032028.4(TSSK1B):c.271G>C (p.Glu91Gln)	MCC, TSSK1B (E91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392591	NM_032028.4(TSSK1B):c.10G>A (p.Ala4Thr)	MCC, TSSK1B (A4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384826	NM_032028.4(TSSK1B):c.875G>A (p.Arg292Gln)	MCC, TSSK1B (R292Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376676	NM_032028.4(TSSK1B):c.26G>A (p.Arg9Gln)	MCC, TSSK1B (R9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376435	NM_032028.4(TSSK1B):c.545C>T (p.Ala182Val)	MCC, TSSK1B (A182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344691	NM_032028.4(TSSK1B):c.196A>G (p.Met66Val)	MCC, TSSK1B (M66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343279	NM_032028.4(TSSK1B):c.397G>A (p.Val133Ile)	MCC, TSSK1B (V133I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342886	NM_032028.4(TSSK1B):c.625A>G (p.Met209Val)	MCC, TSSK1B (M209V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341715	NM_032028.4(TSSK1B):c.488G>A (p.Arg163Gln)	MCC, TSSK1B (R163Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330564	NM_032028.4(TSSK1B):c.592G>A (p.Asp198Asn)	MCC, TSSK1B (D198N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327995	NM_032028.4(TSSK1B):c.649G>A (p.Asp217Asn)	MCC, TSSK1B (D217N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293576	NM_032028.4(TSSK1B):c.725C>T (p.Thr242Ile)	MCC, TSSK1B (T242I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289102	NM_032028.4(TSSK1B):c.500G>A (p.Gly167Asp)	MCC, TSSK1B (G167D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220865	NM_032028.4(TSSK1B):c.1016C>T (p.Ser339Leu)	MCC, TSSK1B (S339L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210847	NM_032028.4(TSSK1B):c.1012C>G (p.Gln338Glu)	MCC, TSSK1B (Q338E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 29