"Ambry Genetics"[submitter] AND "PPP4R4"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2569916	NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly)	PPP4R4 (S13G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2538267	NM_058237.2(PPP4R4):c.55G>C (p.Gly19Arg)	PPP4R4 (G19R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262725	NM_058237.2(PPP4R4):c.85A>G (p.Ile29Val)	PPP4R4 (I29V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3217865	NM_058237.2(PPP4R4):c.95G>C (p.Arg32Thr)	PPP4R4 (R32T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3217862	NM_058237.2(PPP4R4):c.388T>C (p.Tyr130His)	PPP4R4 (Y49H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281689	NM_058237.2(PPP4R4):c.509G>A (p.Arg170Gln)	PPP4R4 (R63Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515729	NM_058237.2(PPP4R4):c.566C>A (p.Ser189Tyr)	PPP4R4 (S189Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217863	NM_058237.2(PPP4R4):c.613G>C (p.Asp205His)	PPP4R4 (D98H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531818	NM_058237.2(PPP4R4):c.620A>T (p.His207Leu)	PPP4R4 (H100L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408377	NM_058237.2(PPP4R4):c.701G>A (p.Arg234Gln)	PPP4R4 (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217864	NM_058237.2(PPP4R4):c.746A>G (p.Lys249Arg)	PPP4R4 (K142R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315136	NM_058237.2(PPP4R4):c.1017T>A (p.Phe339Leu)	PPP4R4 (F339L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371539	NM_058237.2(PPP4R4):c.1094A>T (p.Glu365Val)	PPP4R4 (E258V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205345	NM_058237.2(PPP4R4):c.1154T>C (p.Ile385Thr)	PPP4R4 (I385T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309552	NM_058237.2(PPP4R4):c.1165G>A (p.Asp389Asn)	PPP4R4 (D308N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274667	NM_058237.2(PPP4R4):c.1189C>T (p.Leu397Phe)	PPP4R4 (L290F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217853	NM_058237.2(PPP4R4):c.1231C>G (p.Pro411Ala)	PPP4R4 (P304A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493668	NM_058237.2(PPP4R4):c.1360A>G (p.Ile454Val)	PPP4R4 (I454V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217856	NM_058237.2(PPP4R4):c.1573C>T (p.Arg525Cys)	PPP4R4 (R418C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301881	NM_058237.2(PPP4R4):c.1605G>A (p.Met535Ile)	PPP4R4 (M428I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309551	NM_058237.2(PPP4R4):c.1642C>G (p.Arg548Gly)	PPP4R4 (R441G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309553	NM_058237.2(PPP4R4):c.1699A>G (p.Ile567Val)	PPP4R4 (I486V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214958	NM_058237.2(PPP4R4):c.1783G>C (p.Glu595Gln)	PPP4R4 (E488Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273831	NM_058237.2(PPP4R4):c.1818C>A (p.Phe606Leu)	PPP4R4 (F499L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309554	NM_058237.2(PPP4R4):c.1831A>G (p.Ile611Val)	PPP4R4 (I530V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217857	NM_058237.2(PPP4R4):c.1840A>G (p.Thr614Ala)	PPP4R4 (T614A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617833	NM_058237.2(PPP4R4):c.1844A>G (p.His615Arg)	PPP4R4 (H508R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217858	NM_058237.2(PPP4R4):c.2104G>A (p.Glu702Lys)	PPP4R4 (E702K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253651	NM_058237.2(PPP4R4):c.2319C>G (p.Ser773Arg)	PPP4R4 (S692R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217859	NM_058237.2(PPP4R4):c.2330A>G (p.Asn777Ser)	PPP4R4 (N696S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204831	NM_058237.2(PPP4R4):c.2423G>A (p.Gly808Glu)	PPP4R4 (G727E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507827	NM_058237.2(PPP4R4):c.2460C>A (p.Phe820Leu)	PPP4R4 (F713L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217860	NM_058237.2(PPP4R4):c.2461C>T (p.Arg821Trp)	PPP4R4 (R714W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336651	NM_058237.2(PPP4R4):c.2483T>A (p.Val828Asp)	PPP4R4 (V721D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469432	NM_058237.2(PPP4R4):c.2491T>G (p.Ser831Ala)	PPP4R4 (S724A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261518	NM_058237.2(PPP4R4):c.2497T>C (p.Ser833Pro)	PPP4R4 (S726P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217861	NM_058237.2(PPP4R4):c.2516C>T (p.Pro839Leu)	PPP4R4 (P732L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332819	NM_058237.2(PPP4R4):c.2530G>A (p.Gly844Arg)	PPP4R4 (G737R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38