PPP1R3D[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 2205995	NM_006242.4(PPP1R3D):c.670C>T (p.Arg224Cys)	FAM217B, PPP1R3D (R224C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564642	GRCh37/hg19 20q13.32-13.33(chr20:58342058-59978526)x3	LINC02910, CDH4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221548	GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3	CDH26, FAM217B +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 43