Related gene-specific medical variations for Gene (Select 63939) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309469	NM_006242.4(PPP1R3D):c.85G>T (p.Asp29Tyr)	FAM217B, LOC130066285 +1 more (D29Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309468	NM_006242.4(PPP1R3D):c.148G>C (p.Ala50Pro)	FAM217B, LOC130066285 +1 more (A50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217678	NM_006242.4(PPP1R3D):c.94G>C (p.Gly32Arg)	FAM217B, LOC130066285 +1 more (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217677	NM_006242.4(PPP1R3D):c.80T>G (p.Leu27Arg)	FAM217B, LOC130066285 +1 more (L27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217676	NM_006242.4(PPP1R3D):c.671G>A (p.Arg224His)	FAM217B, PPP1R3D (R224H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217675	NM_006242.4(PPP1R3D):c.64C>T (p.Arg22Trp)	FAM217B, LOC130066285 +1 more (R22W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217674	NM_006242.4(PPP1R3D):c.262G>A (p.Ala88Thr)	FAM217B, PPP1R3D (A88T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217673	NM_006242.4(PPP1R3D):c.16A>G (p.Ser6Gly)	FAM217B, PPP1R3D (S6G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609767	NM_006242.4(PPP1R3D):c.391G>A (p.Val131Met)	FAM217B, PPP1R3D (V131M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537845	NM_006242.4(PPP1R3D):c.865G>A (p.Gly289Arg)	FAM217B, PPP1R3D (G289R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515364	NM_006242.4(PPP1R3D):c.64C>G (p.Arg22Gly)	FAM217B, LOC130066285 +1 more (R22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477352	NM_006242.4(PPP1R3D):c.121T>G (p.Cys41Gly)	FAM217B, LOC130066285 +1 more (C41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465723	NM_006242.4(PPP1R3D):c.194G>A (p.Arg65Gln)	FAM217B, PPP1R3D (R65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358899	NM_006242.4(PPP1R3D):c.83C>T (p.Ser28Leu)	FAM217B, LOC130066285 +1 more (S28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354313	NM_006242.4(PPP1R3D):c.300G>T (p.Lys100Asn)	FAM217B, PPP1R3D (K100N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328428	NM_006242.4(PPP1R3D):c.844C>T (p.His282Tyr)	FAM217B, PPP1R3D (H282Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307944	NM_006242.4(PPP1R3D):c.8G>A (p.Arg3Lys)	FAM217B, PPP1R3D (R3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283001	NM_006242.4(PPP1R3D):c.728C>G (p.Pro243Arg)	FAM217B, PPP1R3D (P243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281566	NM_006242.4(PPP1R3D):c.245G>A (p.Arg82His)	FAM217B, PPP1R3D (R82H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272460	NM_006242.4(PPP1R3D):c.43G>A (p.Gly15Arg)	FAM217B, LOC130066285 +1 more (G15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262413	NM_006242.4(PPP1R3D):c.119C>G (p.Ala40Gly)	FAM217B, LOC130066285 +1 more (A40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260554	NM_006242.4(PPP1R3D):c.670C>A (p.Arg224Ser)	FAM217B, PPP1R3D (R224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250105	NM_006242.4(PPP1R3D):c.860C>T (p.Pro287Leu)	FAM217B, PPP1R3D (P287L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210995	NM_006242.4(PPP1R3D):c.874G>A (p.Glu292Lys)	FAM217B, PPP1R3D (E292K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206257	NM_006242.4(PPP1R3D):c.235C>G (p.Pro79Ala)	FAM217B, PPP1R3D (P79A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206256	NM_006242.4(PPP1R3D):c.232T>C (p.Ser78Pro)	FAM217B, PPP1R3D (S78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205995	NM_006242.4(PPP1R3D):c.670C>T (p.Arg224Cys)	FAM217B, PPP1R3D (R224C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 27