PLD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 3307430	NM_138790.5(PLD4):c.97G>A (p.Val33Ile)	PLD4 (V40I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214655	NM_138790.5(PLD4):c.107C>T (p.Ala36Val)	PLD4 (A36V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214659	NM_138790.5(PLD4):c.133G>A (p.Val45Met)	PLD4 (V45M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214660	NM_138790.5(PLD4):c.166C>G (p.Arg56Gly)	PLD4 (R56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485945	NM_138790.5(PLD4):c.253G>A (p.Ala85Thr)	PLD4 (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550969	NM_138790.5(PLD4):c.418T>C (p.Trp140Arg)	PLD4 (W147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265626	NM_138790.5(PLD4):c.445G>A (p.Val149Ile)	PLD4 (V149I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349999	NM_138790.5(PLD4):c.455C>G (p.Ser152Trp)	PLD4 (S152W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788804	NM_138790.5(PLD4):c.468+4C>T	PLD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2597376	NM_138790.5(PLD4):c.474G>C (p.Glu158Asp)	PLD4 (E158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254783	NM_138790.5(PLD4):c.478C>G (p.Leu160Val)	PLD4 (L160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471874	NM_138790.5(PLD4):c.490C>A (p.Leu164Met)	PLD4 (L171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214661	NM_138790.5(PLD4):c.496C>A (p.Gln166Lys)	PLD4 (Q166K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523802	NM_138790.5(PLD4):c.500T>C (p.Leu167Pro)	PLD4 (L174P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524404	NM_138790.5(PLD4):c.529G>A (p.Ala177Thr)	PLD4 (A177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468860	NM_138790.5(PLD4):c.542C>T (p.Pro181Leu)	PLD4 (P181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368805	NM_138790.5(PLD4):c.554G>A (p.Arg185Lys)	PLD4 (R192K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214662	NM_138790.5(PLD4):c.565G>A (p.Asp189Asn)	PLD4 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214663	NM_138790.5(PLD4):c.583G>A (p.Ala195Thr)	PLD4 (A202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306771	NM_138790.5(PLD4):c.619C>T (p.Arg207Trp)	PLD4 (R214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214664	NM_138790.5(PLD4):c.620G>T (p.Arg207Leu)	PLD4 (R207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456097	NM_138790.5(PLD4):c.643T>G (p.Ser215Ala)	PLD4 (S222A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307428	NM_138790.5(PLD4):c.667C>T (p.Arg223Trp)	PLD4 (R223W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214665	NM_138790.5(PLD4):c.687T>G (p.Ser229Arg)	PLD4 (S229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307431	NM_138790.5(PLD4):c.691A>C (p.Asn231His)	PLD4 (N231H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370791	NM_138790.5(PLD4):c.704G>A (p.Arg235Gln)	PLD4 (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307433	NM_138790.5(PLD4):c.802G>A (p.Gly268Arg)	PLD4 (G268R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592887	NM_138790.5(PLD4):c.863G>A (p.Arg288His)	PLD4 (R295H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307429	NM_138790.5(PLD4):c.878A>G (p.His293Arg)	PLD4 (H293R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307432	NM_138790.5(PLD4):c.895G>T (p.Val299Leu)	PLD4 (V299L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307434	NM_138790.5(PLD4):c.920C>A (p.Ala307Glu)	PLD4 (A314E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596583	NM_138790.5(PLD4):c.941C>T (p.Pro314Leu)	PLD4 (P314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214666	NM_138790.5(PLD4):c.945G>C (p.Gln315His)	PLD4 (Q315H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214667	NM_138790.5(PLD4):c.947G>A (p.Gly316Asp)	PLD4 (G323D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541686	NM_138790.5(PLD4):c.956G>T (p.Arg319Leu)	PLD4 (R319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564957	NM_138790.5(PLD4):c.977C>T (p.Ala326Val)	PLD4 (A333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623935	NM_138790.5(PLD4):c.1012T>A (p.Ser338Thr)	PLD4 (S338T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214653	NM_138790.5(PLD4):c.1029C>A (p.Phe343Leu)	PLD4 (F343L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367274	NM_138790.5(PLD4):c.1034C>T (p.Thr345Ile)	PLD4 (T345I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602303	NM_138790.5(PLD4):c.1040G>C (p.Arg347Pro)	PLD4 (R354P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214654	NM_138790.5(PLD4):c.1054C>A (p.Pro352Thr)	PLD4 (P352T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341196	NM_138790.5(PLD4):c.1102G>C (p.Gly368Arg)	PLD4 (G375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605221	NM_138790.5(PLD4):c.1181T>C (p.Leu394Pro)	PLD4 (L394P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214656	NM_138790.5(PLD4):c.1204G>A (p.Ala402Thr)	PLD4 (A402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528121	NM_138790.5(PLD4):c.1221C>G (p.Asp407Glu)	PLD4 (D407E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465527	NM_138790.5(PLD4):c.1244T>G (p.Val415Gly)	PLD4 (V415G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214658	NM_138790.5(PLD4):c.1247G>A (p.Gly416Glu)	PLD4 (G423E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562055	NM_138790.5(PLD4):c.1364G>A (p.Gly455Glu)	PLD4 (G455E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372920	NM_138790.5(PLD4):c.1366G>A (p.Val456Met)	PLD4 (V456M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487248	NM_138790.5(PLD4):c.1448G>C (p.Arg483Pro)	PLD4 (R490P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319777	NM_138790.5(PLD4):c.1452C>G (p.Asp484Glu)	PLD4 (D491E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348116	NM_138790.5(PLD4):c.1490C>T (p.Ala497Val)	PLD4 (A497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	CDCA4, IGHA2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ZFYVE21, ZNF839 +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 980626	GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3	ZBTB42, CLBA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	BRF1, AHNAK2 +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 831735	NC_000014.9:g.(?_104677659)_(104957672_?)del	ADSS1, AHNAK2 +6 more	Deletion	not provided	GPathogenic
Select item 815683	GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	IGHA2, CEP170B +27 more	Copy number loss	not provided	GPathogenic

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