FAM217B[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +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)	PPP1R3D, FAM217B (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 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 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 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 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 2377624	NM_022106.3(FAM217B):c.98C>T (p.Pro33Leu)	FAM217B (P33L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290427	NM_022106.3(FAM217B):c.121A>T (p.Thr41Ser)	FAM217B (T41S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372566	NM_022106.3(FAM217B):c.151A>G (p.Ser51Gly)	FAM217B (S51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277374	NM_022106.3(FAM217B):c.173G>A (p.Arg58His)	FAM217B (R58H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092297	NM_022106.3(FAM217B):c.205G>A (p.Gly69Arg)	FAM217B (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250602	NM_022106.3(FAM217B):c.245T>C (p.Met82Thr)	FAM217B (M82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277372	NM_022106.3(FAM217B):c.289C>G (p.Leu97Val)	FAM217B (L97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289913	NM_022106.3(FAM217B):c.299C>T (p.Ser100Leu)	FAM217B (S100L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280839	NM_022106.3(FAM217B):c.329T>C (p.Leu110Pro)	FAM217B (L110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340874	NM_022106.3(FAM217B):c.370C>G (p.Pro124Ala)	FAM217B (P124A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213803	NM_022106.3(FAM217B):c.379T>G (p.Phe127Val)	FAM217B (F127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590866	NM_022106.3(FAM217B):c.404A>G (p.His135Arg)	FAM217B (H135R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237751	NM_022106.3(FAM217B):c.459G>C (p.Trp153Cys)	FAM217B (W153C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509751	NM_022106.3(FAM217B):c.495G>T (p.Glu165Asp)	FAM217B (E165D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092298	NM_022106.3(FAM217B):c.557T>C (p.Ile186Thr)	FAM217B (I29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481860	NM_022106.3(FAM217B):c.607G>A (p.Gly203Arg)	FAM217B (G46R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317045	NM_022106.3(FAM217B):c.659G>A (p.Ser220Asn)	FAM217B (S220N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319819	NM_022106.3(FAM217B):c.674A>C (p.Lys225Thr)	FAM217B (K225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526762	NM_022106.3(FAM217B):c.683C>G (p.Ala228Gly)	FAM217B (A71G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225905	NM_022106.3(FAM217B):c.737C>T (p.Pro246Leu)	FAM217B (P246L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618681	NM_022106.3(FAM217B):c.808C>T (p.Pro270Ser)	FAM217B (P270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092299	NM_022106.3(FAM217B):c.856C>T (p.Leu286Phe)	FAM217B (L129F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369255	NM_022106.3(FAM217B):c.864G>A (p.Met288Ile)	FAM217B (M131I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550482	NM_022106.3(FAM217B):c.881A>G (p.Lys294Arg)	FAM217B (K294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379298	NM_022106.3(FAM217B):c.895A>G (p.Lys299Glu)	FAM217B (K142E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362243	NM_022106.3(FAM217B):c.914G>A (p.Arg305His)	FAM217B (R305H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397178	NM_022106.3(FAM217B):c.928G>A (p.Gly310Ser)	FAM217B (G153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286636	NM_022106.3(FAM217B):c.941G>C (p.Ser314Thr)	FAM217B (S314T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277373	NM_022106.3(FAM217B):c.949G>A (p.Val317Met)	FAM217B (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389996	NM_022106.3(FAM217B):c.967A>G (p.Ile323Val)	FAM217B (I323V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256136	NM_022106.3(FAM217B):c.1043C>T (p.Ala348Val)	FAM217B (A191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289758	NM_022106.3(FAM217B):c.1054A>G (p.Lys352Glu)	FAM217B (K195E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488580	NM_022106.3(FAM217B):c.1094C>G (p.Ser365Trp)	FAM217B (S208W +1 more)	Single nucleotide variant (missense variant)	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	AAR2, ABHD12 +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: 79