29195[HGNC] - ClinVar - NCBI

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	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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 2380271	NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro)	PPP6R1, TMEM86B (A85P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179673	NM_173804.5(TMEM86B):c.212G>A (p.Gly71Glu)	PPP6R1, TMEM86B (G70E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286138	NM_173804.5(TMEM86B):c.211G>A (p.Gly71Arg)	PPP6R1, TMEM86B (G70R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257883	NM_173804.5(TMEM86B):c.122C>G (p.Pro41Arg)	PPP6R1, TMEM86B (P40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457953	NM_173804.5(TMEM86B):c.100G>A (p.Val34Met)	PPP6R1, TMEM86B (V33M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769050	NM_014931.4(PPP6R1):c.2643-10C>T	PPP6R1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217895	NM_014931.4(PPP6R1):c.2603A>G (p.Asn868Ser)	PPP6R1 (N868S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239102	NM_014931.4(PPP6R1):c.2594C>T (p.Pro865Leu)	PPP6R1 (P865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217894	NM_014931.4(PPP6R1):c.2585C>T (p.Thr862Met)	PPP6R1 (T862M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532120	NM_014931.4(PPP6R1):c.2528G>A (p.Gly843Glu)	PPP6R1 (G843E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345980	NM_014931.4(PPP6R1):c.2497G>A (p.Gly833Arg)	PPP6R1 (G833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217893	NM_014931.4(PPP6R1):c.2443C>T (p.Pro815Ser)	PPP6R1 (P815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352423	NM_014931.4(PPP6R1):c.2435G>A (p.Arg812His)	PPP6R1 (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285597	NM_014931.4(PPP6R1):c.2428G>A (p.Gly810Arg)	PPP6R1 (G810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217892	NM_014931.4(PPP6R1):c.2416G>A (p.Ala806Thr)	PPP6R1 (A806T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309560	NM_014931.4(PPP6R1):c.2404G>A (p.Gly802Arg)	PPP6R1 (G802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217891	NM_014931.4(PPP6R1):c.2396T>C (p.Val799Ala)	PPP6R1 (V799A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600093	NM_014931.4(PPP6R1):c.2390C>T (p.Ala797Val)	PPP6R1 (A797V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217890	NM_014931.4(PPP6R1):c.2381C>T (p.Pro794Leu)	PPP6R1 (P794L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553614	NM_014931.4(PPP6R1):c.2362G>A (p.Val788Ile)	PPP6R1 (V788I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228946	NM_014931.4(PPP6R1):c.2327C>G (p.Pro776Arg)	PPP6R1 (P776R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217889	NM_014931.4(PPP6R1):c.2287C>T (p.Arg763Cys)	PPP6R1 (R763C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284793	NM_014931.4(PPP6R1):c.2279C>T (p.Pro760Leu)	PPP6R1 (P760L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249693	NM_014931.4(PPP6R1):c.2279C>G (p.Pro760Arg)	PPP6R1 (P760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217888	NM_014931.4(PPP6R1):c.2216C>T (p.Pro739Leu)	PPP6R1 (P739L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284721	NM_014931.4(PPP6R1):c.2215C>G (p.Pro739Ala)	PPP6R1 (P739A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324954	NM_014931.4(PPP6R1):c.2207A>G (p.His736Arg)	PPP6R1 (H736R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250961	NM_014931.4(PPP6R1):c.2191G>A (p.Gly731Arg)	PPP6R1 (G731R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356925	NM_014931.4(PPP6R1):c.2189C>T (p.Ser730Phe)	PPP6R1 (S730F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387059	NM_014931.4(PPP6R1):c.2128C>A (p.Pro710Thr)	PPP6R1 (P710T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492615	NM_014931.4(PPP6R1):c.2104A>G (p.Ser702Gly)	PPP6R1 (S702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789673	NM_014931.4(PPP6R1):c.2074C>T (p.Arg692Cys)	PPP6R1 (R692C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2522523	NM_014931.4(PPP6R1):c.1987C>T (p.Arg663Trp)	PPP6R1 (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309564	NM_014931.4(PPP6R1):c.1982G>A (p.Gly661Asp)	PPP6R1 (G661D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354037	NM_014931.4(PPP6R1):c.1963C>T (p.Arg655Cys)	PPP6R1 (R655C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217887	NM_014931.4(PPP6R1):c.1952C>A (p.Ala651Asp)	PPP6R1 (A651D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357550	NM_014931.4(PPP6R1):c.1930G>A (p.Ala644Thr)	PPP6R1 (A644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309562	NM_014931.4(PPP6R1):c.1861G>C (p.Asp621His)	PPP6R1 (D621H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379938	NM_014931.4(PPP6R1):c.1847G>A (p.Arg616His)	PPP6R1 (R616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519414	NM_014931.4(PPP6R1):c.1753G>A (p.Ala585Thr)	PPP6R1 (A585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260198	NM_014931.4(PPP6R1):c.1621T>C (p.Phe541Leu)	PPP6R1 (F541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589124	NM_014931.4(PPP6R1):c.1618G>A (p.Glu540Lys)	PPP6R1 (E540K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245352	NM_014931.4(PPP6R1):c.1609C>T (p.Arg537Trp)	PPP6R1 (R537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217886	NM_014931.4(PPP6R1):c.1586C>T (p.Ser529Phe)	PPP6R1 (S529F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393528	NM_014931.4(PPP6R1):c.1478A>G (p.Glu493Gly)	PPP6R1 (E493G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217885	NM_014931.4(PPP6R1):c.1458G>T (p.Gln486His)	PPP6R1 (Q486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217884	NM_014931.4(PPP6R1):c.1285G>A (p.Val429Ile)	PPP6R1 (V429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256599	NM_014931.4(PPP6R1):c.1250C>T (p.Pro417Leu)	PPP6R1 (P417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260317	NM_014931.4(PPP6R1):c.1181T>G (p.Val394Gly)	PPP6R1 (V394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217927	NM_014931.4(PPP6R1):c.1144G>A (p.Val382Met)	PPP6R1 (V382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601990	NM_014931.4(PPP6R1):c.1126G>A (p.Glu376Lys)	PPP6R1 (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316053	NM_014931.4(PPP6R1):c.1121C>T (p.Thr374Met)	PPP6R1 (T374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487512	NM_014931.4(PPP6R1):c.1109A>G (p.Asp370Gly)	PPP6R1 (D370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225568	NM_014931.4(PPP6R1):c.1102G>A (p.Ala368Thr)	PPP6R1 (A368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217882	NM_014931.4(PPP6R1):c.1096C>G (p.Leu366Val)	PPP6R1 (L366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217881	NM_014931.4(PPP6R1):c.1015C>A (p.Pro339Thr)	PPP6R1 (P339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330816	NM_014931.4(PPP6R1):c.1008+4_1008+5del	PPP6R1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3217880	NM_014931.4(PPP6R1):c.1003C>T (p.Pro335Ser)	PPP6R1 (P335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383505	NM_014931.4(PPP6R1):c.965C>T (p.Pro322Leu)	PPP6R1 (P322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456062	NM_014931.4(PPP6R1):c.962G>A (p.Arg321His)	PPP6R1 (R321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385534	NM_014931.4(PPP6R1):c.961C>T (p.Arg321Cys)	PPP6R1 (R321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778870	NM_014931.4(PPP6R1):c.856G>A (p.Val286Met)	PPP6R1 (V286M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1330998	NM_014931.4(PPP6R1):c.830A>T (p.Glu277Val)	PPP6R1 (E277V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3217903	NM_014931.4(PPP6R1):c.823C>A (p.Leu275Met)	PPP6R1 (L275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309563	NM_014931.4(PPP6R1):c.763A>G (p.Met255Val)	PPP6R1 (M255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217902	NM_014931.4(PPP6R1):c.745G>A (p.Glu249Lys)	PPP6R1 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217901	NM_014931.4(PPP6R1):c.740C>T (p.Thr247Met)	PPP6R1 (T247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217900	NM_014931.4(PPP6R1):c.708C>G (p.Asp236Glu)	PPP6R1 (D236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375870	NM_014931.4(PPP6R1):c.668G>A (p.Arg223Gln)	PPP6R1 (R223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537332	NM_014931.4(PPP6R1):c.659G>A (p.Arg220His)	PPP6R1 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280196	NM_014931.4(PPP6R1):c.658C>T (p.Arg220Cys)	PPP6R1 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538921	NM_014931.4(PPP6R1):c.623A>G (p.His208Arg)	PPP6R1 (H208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605637	NM_014931.4(PPP6R1):c.610G>A (p.Asp204Asn)	PPP6R1 (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217899	NM_014931.4(PPP6R1):c.574G>A (p.Val192Ile)	PPP6R1 (V192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508714	NM_014931.4(PPP6R1):c.551A>G (p.Asn184Ser)	PPP6R1 (N184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217898	NM_014931.4(PPP6R1):c.493C>T (p.Leu165Phe)	PPP6R1 (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309561	NM_014931.4(PPP6R1):c.340G>A (p.Gly114Ser)	PPP6R1 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217897	NM_014931.4(PPP6R1):c.316C>A (p.Leu106Ile)	PPP6R1 (L106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217896	NM_014931.4(PPP6R1):c.278A>G (p.Asn93Ser)	PPP6R1 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464757	NM_014931.4(PPP6R1):c.221G>A (p.Arg74His)	PPP6R1 (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599745	NM_014931.4(PPP6R1):c.205G>A (p.Gly69Ser)	PPP6R1 (G69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254939	NM_014931.4(PPP6R1):c.124C>T (p.Arg42Cys)	PPP6R1 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance

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