"Ambry Genetics"[submitter] AND "RSPH10B"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2348789	NM_173565.5(RSPH10B):c.2580C>G (p.Ser860Arg)	CCZ1, RSPH10B (S860R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363793	NM_173565.5(RSPH10B):c.2510C>T (p.Pro837Leu)	CCZ1, RSPH10B (P837L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241650	NM_173565.5(RSPH10B):c.2495C>T (p.Thr832Ile)	CCZ1, RSPH10B (T832I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385362	NM_173565.5(RSPH10B):c.2485G>A (p.Val829Met)	CCZ1, RSPH10B (V829M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386036	NM_173565.5(RSPH10B):c.2482G>A (p.Glu828Lys)	RSPH10B, CCZ1 (E828K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156680	NM_173565.5(RSPH10B):c.2465C>T (p.Ala822Val)	CCZ1, RSPH10B (A822V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394907	NM_173565.5(RSPH10B):c.2429C>T (p.Ala810Val)	RSPH10B (A810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597765	NM_173565.5(RSPH10B):c.2402G>A (p.Arg801Gln)	RSPH10B (R801Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388802	NM_173565.5(RSPH10B):c.2320T>G (p.Phe774Val)	RSPH10B (F774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596766	NM_173565.5(RSPH10B):c.2300T>C (p.Val767Ala)	RSPH10B (V767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341420	NM_173565.5(RSPH10B):c.2299G>A (p.Val767Ile)	RSPH10B (V767I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258182	NM_173565.5(RSPH10B):c.2270A>C (p.Glu757Ala)	RSPH10B (E757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156679	NM_173565.5(RSPH10B):c.2243A>G (p.Glu748Gly)	RSPH10B (E748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156678	NM_173565.5(RSPH10B):c.1912A>G (p.Ile638Val)	RSPH10B (I638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455464	NM_173565.5(RSPH10B):c.1724C>T (p.Thr575Met)	RSPH10B (T575M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478292	NM_173565.5(RSPH10B):c.1681C>T (p.Leu561Phe)	RSPH10B (L561F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156677	NM_173565.5(RSPH10B):c.1648A>G (p.Met550Val)	RSPH10B (M550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156682	NM_173565.5(RSPH10B):c.760C>T (p.Arg254Trp)	RSPH10B (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379008	NM_173565.5(RSPH10B):c.712G>A (p.Gly238Arg)	RSPH10B (G238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327910	NM_173565.5(RSPH10B):c.686G>A (p.Gly229Asp)	RSPH10B (G229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603931	NM_173565.5(RSPH10B):c.613G>C (p.Glu205Gln)	RSPH10B (E205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156681	NM_173565.5(RSPH10B):c.527C>A (p.Pro176His)	RSPH10B (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615912	NM_173565.5(RSPH10B):c.239A>C (p.Lys80Thr)	RSPH10B (K80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347263	NM_173565.5(RSPH10B):c.80A>G (p.Asp27Gly)	RSPH10B (D27G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2218141	NM_173565.5(RSPH10B):c.49C>T (p.Arg17Cys)	RSPH10B (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25