93650[geneid] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 3138948	NM_033068.3(ACP4):c.7G>A (p.Gly3Ser)	ACP4 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059630	NM_033068.3(ACP4):c.43CTG[5] (p.Leu20del)	ACP4 (L20del)	Microsatellite	ACP4-related disorder	GBenign
Select item 2540847	NM_033068.3(ACP4):c.73C>T (p.Arg25Trp)	ACP4 (R25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528672	NM_033068.3(ACP4):c.103G>A (p.Val35Met)	ACP4 (V35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138873	NM_033068.3(ACP4):c.119G>A (p.Arg40His)	ACP4 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138881	NM_033068.3(ACP4):c.130C>T (p.Arg44Trp)	ACP4 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052299	NM_033068.3(ACP4):c.138G>A (p.Pro46=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3138884	NM_033068.3(ACP4):c.215C>T (p.Thr72Met)	ACP4 (T72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058974	NM_033068.3(ACP4):c.216G>A (p.Thr72=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GBenign
Select item 374864	NM_033068.3(ACP4):c.226C>T (p.Arg76Cys)	ACP4 (R76C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GPathogenic
Select item 2568664	NM_033068.3(ACP4):c.227G>A (p.Arg76His)	ACP4 (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723827	NM_033068.3(ACP4):c.227_244delinsA (p.Arg76fs)	ACP4 (R76fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1027404	NM_033068.3(ACP4):c.262C>A (p.Arg88Ser)	ACP4 (R88S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 3138891	NM_033068.3(ACP4):c.292C>T (p.Arg98Trp)	ACP4 (R98W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468278	NM_033068.3(ACP4):c.293G>A (p.Arg98Gln)	ACP4 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138895	NM_033068.3(ACP4):c.314G>A (p.Arg105His)	ACP4 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 374863	NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)	ACP4 (R111C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J +1 more	GLikely pathogenic
Select item 1027405	NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)	ACP4 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049553	NM_033068.3(ACP4):c.363C>T (p.Ala121=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 777505	NM_033068.3(ACP4):c.375C>T (p.Pro125=)	ACP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 374865	NM_033068.3(ACP4):c.382G>C (p.Ala128Pro)	ACP4 (A128P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GPathogenic
Select item 374866	NM_033068.3(ACP4):c.397G>A (p.Glu133Lys)	ACP4 (E133K)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GPathogenic
Select item 3138903	NM_033068.3(ACP4):c.410G>C (p.Arg137Thr)	ACP4 (R137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027406	NM_033068.3(ACP4):c.419C>T (p.Pro140Leu)	ACP4 (P140L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 3138906	NM_033068.3(ACP4):c.424C>T (p.His142Tyr)	ACP4 (H142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375700	NM_033068.3(ACP4):c.428C>T (p.Thr143Met)	ACP4 (T143M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GPathogenic
Select item 3358401	NM_033068.3(ACP4):c.429G>A (p.Thr143=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 2522132	NM_033068.3(ACP4):c.448A>G (p.Lys150Glu)	ACP4 (K150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044610	NM_033068.3(ACP4):c.465C>T (p.Pro155=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3138913	NM_033068.3(ACP4):c.511G>A (p.Glu171Lys)	ACP4 (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541829	NM_033068.3(ACP4):c.524A>G (p.Tyr175Cys)	ACP4 (Y175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138923	NM_033068.3(ACP4):c.548C>T (p.Thr183Met)	ACP4 (T183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053842	NM_033068.3(ACP4):c.549+7A>G	ACP4	Single nucleotide variant (intron variant)	ACP4-related disorder	GLikely benign
Select item 786671	NM_033068.3(ACP4):c.550-9C>T	ACP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041362	NM_033068.3(ACP4):c.550-8G>A	ACP4	Single nucleotide variant (intron variant)	ACP4-related disorder	GLikely benign
Select item 716610	NM_033068.3(ACP4):c.550-4C>T	ACP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3138929	NM_033068.3(ACP4):c.562C>T (p.Arg188Cys)	ACP4 (R188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138933	NM_033068.3(ACP4):c.608G>A (p.Arg203His)	ACP4 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712025	NM_033068.3(ACP4):c.618G>A (p.Trp206Ter)	ACP4 (W206*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2445595	NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)	ACP4 (L209P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GUncertain significance
Select item 2445430	NM_033068.3(ACP4):c.645+1G>A	ACP4	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta, type 1J	GLikely pathogenic
Select item 3048815	NM_033068.3(ACP4):c.654C>T (p.His218=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 2460017	NM_033068.3(ACP4):c.655G>C (p.Gly219Arg)	ACP4 (G219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138938	NM_033068.3(ACP4):c.683C>A (p.Pro228Gln)	ACP4 (P228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 374862	NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)	ACP4 (S238L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 2445431	NM_033068.3(ACP4):c.736G>A (p.Val246Met)	ACP4 (V246M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GLikely pathogenic
Select item 375694	NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)	ACP4 (P249L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GPathogenic
Select item 2471584	NM_033068.3(ACP4):c.748C>T (p.Arg250Trp)	ACP4 (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138952	NM_033068.3(ACP4):c.881C>A (p.Ala294Asp)	ACP4, LOC130065005 (A294D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138959	NM_033068.3(ACP4):c.886C>A (p.Gln296Lys)	ACP4, LOC130065005 (Q296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138961	NM_033068.3(ACP4):c.920C>T (p.Pro307Leu)	ACP4, LOC130065005 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593230	NM_033068.3(ACP4):c.940G>A (p.Gly314Ser)	ACP4, LOC130065005 (G314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138965	NM_033068.3(ACP4):c.949T>C (p.Phe317Leu)	ACP4, LOC130065005 (F317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056780	NM_033068.3(ACP4):c.973G>A (p.Ala325Thr)	ACP4 (A325T)	Single nucleotide variant (missense variant)	ACP4-related disorder	GBenign
Select item 3059901	NM_033068.3(ACP4):c.974C>A (p.Ala325Asp)	ACP4 (A325D)	Single nucleotide variant (missense variant)	ACP4-related disorder	GBenign
Select item 784720	NM_033068.3(ACP4):c.983G>C (p.Gly328Ala)	ACP4 (G328A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3049541	NM_033068.3(ACP4):c.1023C>T (p.Ser341=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3138864	NM_033068.3(ACP4):c.1061C>T (p.Pro354Leu)	ACP4 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516170	NM_033068.3(ACP4):c.1061C>A (p.Pro354Gln)	ACP4 (P354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138869	NM_033068.3(ACP4):c.1103C>T (p.Pro368Leu)	ACP4 (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620440	NM_033068.3(ACP4):c.1121A>G (p.His374Arg)	ACP4 (H374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046958	NM_033068.3(ACP4):c.1165+2T>G	ACP4	Single nucleotide variant (splice donor variant)	ACP4-related disorder	GLikely benign
Select item 2445429	NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)	ACP4, LOC130065006 (A400D)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GUncertain significance
Select item 3138876	NM_033068.3(ACP4):c.1247C>G (p.Pro416Arg)	ACP4 (P416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 81