5518[geneid] - 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 1723416	NM_014225.6(PPP2R1A):c.-4del	PPP2R1A	Deletion (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 724934	NM_014225.6(PPP2R1A):c.12C>T (p.Ala4=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029258	NM_014225.6(PPP2R1A):c.15C>G (p.Asp5Glu)	PPP2R1A (D5E)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 3217750	NM_014225.6(PPP2R1A):c.26C>T (p.Ser9Leu)	PPP2R1A (S9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723052	NM_014225.6(PPP2R1A):c.27G>T (p.Ser9=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751555	NM_014225.6(PPP2R1A):c.30G>A (p.Leu10=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1965939	NM_014225.6(PPP2R1A):c.33C>T (p.Tyr11=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937538	NM_014225.6(PPP2R1A):c.36C>T (p.Pro12=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027721	NM_014225.6(PPP2R1A):c.39C>T (p.Ile13=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759477	NM_014225.6(PPP2R1A):c.40G>T (p.Ala14Ser)	PPP2R1A (A14S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189457	NM_014225.6(PPP2R1A):c.50T>C (p.Ile17Thr)	PPP2R1A (I17T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2288085	NM_014225.6(PPP2R1A):c.61C>T (p.Arg21Cys)	PPP2R1A (R21C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1304830	NM_014225.6(PPP2R1A):c.66T>A (p.Asn22Lys)	PPP2R1A (N22K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867065	NM_014225.6(PPP2R1A):c.73G>T (p.Val25Phe)	PPP2R1A (V25F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135073	NM_014225.6(PPP2R1A):c.75T>G (p.Val25=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1322011	NM_014225.6(PPP2R1A):c.78+2T>C	PPP2R1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 2803256	NM_014225.6(PPP2R1A):c.78+5G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1677189	NM_014225.6(PPP2R1A):c.78+7A>C	PPP2R1A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1170866	NM_014225.6(PPP2R1A):c.78+11T>C	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2119654	NM_014225.6(PPP2R1A):c.78+18dup	PPP2R1A	Duplication (intron variant)	not provided	GBenign
Select item 3338928	NM_014225.6(PPP2R1A):c.78+16G>A	PPP2R1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2821072	NM_014225.6(PPP2R1A):c.78+18G>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969558	NM_014225.6(PPP2R1A):c.78+20C>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 133376	NM_014225.6(PPP2R1A):c.78+30A>C	PPP2R1A	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133377	NM_014225.6(PPP2R1A):c.78+62C>G	PPP2R1A	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 3063813	NM_014225.6(PPP2R1A):c.78+76_78+77del	PPP2R1A	Deletion (intron variant)	not specified	GLikely benign
Select item 133378	NM_014225.6(PPP2R1A):c.78+82T>G	PPP2R1A	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 2650383	NM_014225.6(PPP2R1A):c.78+87T>C	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 133379	NM_014225.6(PPP2R1A):c.78+113C>T	PPP2R1A	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 2650384	NM_014225.6(PPP2R1A):c.79-1669G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642399	NM_014225.6(PPP2R1A):c.79-16_79-14del	PPP2R1A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1962832	NM_014225.6(PPP2R1A):c.79-16C>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658163	NM_014225.6(PPP2R1A):c.79-16C>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665383	NM_014225.6(PPP2R1A):c.79-8C>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177598	NM_014225.6(PPP2R1A):c.79-6C>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063268	NM_014225.6(PPP2R1A):c.79-5A>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674630	NM_014225.6(PPP2R1A):c.84C>T (p.Arg28=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2498148	NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)	PPP2R1A (I32M)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 1920063	NM_014225.6(PPP2R1A):c.114C>T (p.Ile38=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2574441	NM_014225.6(PPP2R1A):c.115G>A (p.Ala39Thr)	PPP2R1A (A39T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2730812	NM_014225.6(PPP2R1A):c.126T>C (p.Leu42=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2866460	NM_014225.6(PPP2R1A):c.156G>T (p.Leu52=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2701742	NM_014225.6(PPP2R1A):c.162C>T (p.Phe54=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1645632	NM_014225.6(PPP2R1A):c.169+8A>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013412	NM_014225.6(PPP2R1A):c.169+11G>C	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1420429	NM_014225.6(PPP2R1A):c.169+11G>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1598635	NM_014225.6(PPP2R1A):c.169+12G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959795	NM_014225.6(PPP2R1A):c.169+17del	PPP2R1A	Deletion (intron variant)	not provided	GBenign
Select item 2101082	NM_014225.6(PPP2R1A):c.169+16C>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702648	NM_014225.6(PPP2R1A):c.169+17C>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652648	NM_014225.6(PPP2R1A):c.169+17C>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072393	NM_014225.6(PPP2R1A):c.170-13C>G	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635482	NM_014225.6(PPP2R1A):c.170-12T>C	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133508	NM_014225.6(PPP2R1A):c.170-9G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788693	NM_014225.6(PPP2R1A):c.201G>C (p.Leu67=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2415115	NM_014225.6(PPP2R1A):c.205C>T (p.Leu69=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2106595	NM_014225.6(PPP2R1A):c.207G>T (p.Leu69=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2838938	NM_014225.6(PPP2R1A):c.217C>G (p.Leu73Val)	PPP2R1A (L73V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2829899	NM_014225.6(PPP2R1A):c.217C>T (p.Leu73=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2826415	NM_014225.6(PPP2R1A):c.224C>A (p.Thr75Asn)	PPP2R1A (T75N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1578390	NM_014225.6(PPP2R1A):c.228C>T (p.Phe76=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1878802	NM_014225.6(PPP2R1A):c.230C>G (p.Thr77Ser)	PPP2R1A (T77S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2185112	NM_014225.6(PPP2R1A):c.231T>C (p.Thr77=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3217749	NM_014225.6(PPP2R1A):c.232A>G (p.Thr78Ala)	PPP2R1A (T78A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1935852	NM_014225.6(PPP2R1A):c.232A>C (p.Thr78Pro)	PPP2R1A (T78P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1576479	NM_014225.6(PPP2R1A):c.255C>T (p.Tyr85=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986557	NM_014225.6(PPP2R1A):c.256G>A (p.Val86Met)	PPP2R1A (V86M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 717496	NM_014225.6(PPP2R1A):c.259C>T (p.His87Tyr)	PPP2R1A (H87Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2776443	NM_014225.6(PPP2R1A):c.261C>T (p.His87=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2579831	NM_014225.6(PPP2R1A):c.270+2T>G	PPP2R1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1916917	NM_014225.6(PPP2R1A):c.270+12G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881647	NM_014225.6(PPP2R1A):c.271-15G>A	PPP2R1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 976337	NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu)	PPP2R1A (P92L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1673018	NM_014225.6(PPP2R1A):c.276G>A (p.Pro92=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1403540	NM_014225.6(PPP2R1A):c.284C>T (p.Ser95Leu)	PPP2R1A (S95L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2086177	NM_014225.6(PPP2R1A):c.285G>T (p.Ser95=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 739841	NM_014225.6(PPP2R1A):c.285G>A (p.Ser95=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2430335	NM_014225.6(PPP2R1A):c.306_308del (p.Val104del)	PPP2R1A (V104del)	Deletion (5 prime UTR variant +2 more)	See cases	GUncertain significance
Select item 2692504	NM_014225.6(PPP2R1A):c.313C>T (p.Arg105Trp)	PPP2R1A (R105W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1708729	NM_014225.6(PPP2R1A):c.317A>G (p.Asp106Gly)	PPP2R1A (D106G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2131309	NM_014225.6(PPP2R1A):c.321G>A (p.Lys107=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2114980	NM_014225.6(PPP2R1A):c.330G>A (p.Glu110=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1670109	NM_014225.6(PPP2R1A):c.331T>G (p.Ser111Ala)	PPP2R1A (S111A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2650385	NM_014225.6(PPP2R1A):c.333C>T (p.Ser111=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1895454	NM_014225.6(PPP2R1A):c.337C>T (p.Arg113Trp)	PPP2R1A (R113W)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 717094	NM_014225.6(PPP2R1A):c.337C>A (p.Arg113=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1372237	NM_014225.6(PPP2R1A):c.343A>G (p.Ile115Val)	PPP2R1A (I115V)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2 +1 more	GUncertain significance
Select item 1663842	NM_014225.6(PPP2R1A):c.351C>T (p.His117=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 957599	NM_014225.6(PPP2R1A):c.352G>A (p.Glu118Lys)	PPP2R1A (E118K)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 3018921	NM_014225.6(PPP2R1A):c.354G>A (p.Glu118=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1518940	NM_014225.6(PPP2R1A):c.359C>T (p.Ser120Leu)	PPP2R1A (S120L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2042202	NM_014225.6(PPP2R1A):c.360G>A (p.Ser120=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1621903	NM_014225.6(PPP2R1A):c.377C>T (p.Ala126Val)	PPP2R1A (A126V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign

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