PPP1R15A[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
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 2599452	NM_014330.5(PPP1R15A):c.7C>T (p.Pro3Ser)	LOC119369030, PPP1R15A (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309363	NM_014330.5(PPP1R15A):c.51C>A (p.His17Gln)	LOC119369030, PPP1R15A (H17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266698	NM_014330.5(PPP1R15A):c.82C>T (p.Leu28Phe)	LOC119369030, PPP1R15A (L28F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494074	NM_014330.5(PPP1R15A):c.121C>T (p.Pro41Ser)	LOC119369030, PPP1R15A (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609107	NM_014330.5(PPP1R15A):c.166G>A (p.Val56Ile)	LOC119369030, PPP1R15A (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596802	NM_014330.5(PPP1R15A):c.191C>T (p.Ala64Val)	LOC119369030, PPP1R15A (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541107	NM_014330.5(PPP1R15A):c.194G>T (p.Arg65Met)	LOC119369030, PPP1R15A (R65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217499	NM_014330.5(PPP1R15A):c.211C>T (p.Pro71Ser)	LOC119369030, PPP1R15A (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319424	NM_014330.5(PPP1R15A):c.218C>T (p.Thr73Ile)	LOC119369030, PPP1R15A (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560808	NM_014330.5(PPP1R15A):c.385G>A (p.Gly129Arg)	LOC119369030, PPP1R15A (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217501	NM_014330.5(PPP1R15A):c.407A>G (p.Asp136Gly)	LOC119369030, PPP1R15A (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341094	NM_014330.5(PPP1R15A):c.415C>T (p.Arg139Cys)	LOC119369030, PPP1R15A (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547323	NM_014330.5(PPP1R15A):c.430C>G (p.Pro144Ala)	LOC119369030, PPP1R15A (P144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469204	NM_014330.5(PPP1R15A):c.502G>T (p.Val168Phe)	LOC119369030, PPP1R15A (V168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239163	NM_014330.5(PPP1R15A):c.509A>T (p.Glu170Val)	LOC119369030, PPP1R15A (E170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778851	NM_014330.5(PPP1R15A):c.552G>A (p.Arg184=)	LOC119369030, PPP1R15A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3217502	NM_014330.5(PPP1R15A):c.553G>C (p.Glu185Gln)	LOC119369030, PPP1R15A (E185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594991	NM_014330.5(PPP1R15A):c.568G>A (p.Val190Met)	LOC119369030, PPP1R15A (V190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309364	NM_014330.5(PPP1R15A):c.620C>T (p.Ser207Phe)	LOC119369030, PPP1R15A (S207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274465	NM_014330.5(PPP1R15A):c.650C>T (p.Pro217Leu)	LOC119369030, PPP1R15A (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409719	NM_014330.5(PPP1R15A):c.665C>G (p.Ser222Cys)	LOC119369030, PPP1R15A (S222C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525397	NM_014330.5(PPP1R15A):c.742G>A (p.Val248Met)	LOC119369030, PPP1R15A (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217503	NM_014330.5(PPP1R15A):c.766G>A (p.Asp256Asn)	LOC119369030, PPP1R15A (D256N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315993	NM_014330.5(PPP1R15A):c.787C>T (p.Arg263Cys)	LOC119369030, PPP1R15A (R263C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217504	NM_014330.5(PPP1R15A):c.788G>A (p.Arg263His)	LOC119369030, PPP1R15A (R263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309365	NM_014330.5(PPP1R15A):c.828C>G (p.His276Gln)	LOC119369030, PPP1R15A (H276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509166	NM_014330.5(PPP1R15A):c.881C>T (p.Ala294Val)	PPP1R15A, LOC119369030 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306866	NM_014330.5(PPP1R15A):c.896T>C (p.Leu299Pro)	LOC119369030, PPP1R15A (L299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590368	NM_014330.5(PPP1R15A):c.952G>A (p.Gly318Arg)	LOC119369030, PPP1R15A (G318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344241	NM_014330.5(PPP1R15A):c.982T>C (p.Cys328Arg)	LOC119369030, PPP1R15A (C328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217490	NM_014330.5(PPP1R15A):c.1006A>G (p.Ser336Gly)	LOC119369030, PPP1R15A (S336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319623	NM_014330.5(PPP1R15A):c.1014C>G (p.Phe338Leu)	LOC119369030, PPP1R15A (F338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532498	NM_014330.5(PPP1R15A):c.1163C>T (p.Ser388Phe)	LOC119369030, LOC119369032 +1 more (S388F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522096	NM_014330.5(PPP1R15A):c.1256C>A (p.Ser419Tyr)	LOC119369032, PPP1R15A (S419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278190	NM_014330.5(PPP1R15A):c.1258G>C (p.Ala420Pro)	LOC119369032, PPP1R15A (A420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309355	NM_014330.5(PPP1R15A):c.1291G>C (p.Ala431Pro)	LOC119369032, PPP1R15A (A431P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217491	NM_014330.5(PPP1R15A):c.1291G>T (p.Ala431Ser)	LOC119369032, PPP1R15A (A431S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309357	NM_014330.5(PPP1R15A):c.1303C>G (p.Arg435Gly)	LOC119369032, PPP1R15A (R435G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217492	NM_014330.5(PPP1R15A):c.1303C>T (p.Arg435Trp)	LOC119369032, PPP1R15A (R435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217493	NM_014330.5(PPP1R15A):c.1326G>C (p.Glu442Asp)	LOC119369032, PPP1R15A (E442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309362	NM_014330.5(PPP1R15A):c.1579C>G (p.Leu527Val)	LOC119369032, PPP1R15A (L527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309358	NM_014330.5(PPP1R15A):c.1600C>T (p.Arg534Trp)	LOC119369032, PPP1R15A (R534W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650222	NM_014330.5(PPP1R15A):c.1605C>T (p.Leu535=)	LOC119369032, PPP1R15A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224456	NM_014330.5(PPP1R15A):c.1609C>T (p.Arg537Cys)	LOC119369032, PPP1R15A (R537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211189	NM_014330.5(PPP1R15A):c.1610G>A (p.Arg537His)	LOC119369032, PPP1R15A (R537H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218753	NM_014330.5(PPP1R15A):c.1622C>T (p.Pro541Leu)	LOC119369032, PPP1R15A (P541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309360	NM_014330.5(PPP1R15A):c.1624A>G (p.Thr542Ala)	LOC119369032, PPP1R15A (T542A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788621	NM_014330.5(PPP1R15A):c.1666-7C>T	LOC130064887, PPP1R15A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309366	NM_014330.5(PPP1R15A):c.1700T>C (p.Leu567Pro)	PPP1R15A (L567P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391220	NM_014330.5(PPP1R15A):c.1705G>A (p.Val569Ile)	PPP1R15A (V569I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309356	NM_014330.5(PPP1R15A):c.1706T>G (p.Val569Gly)	PPP1R15A (V569G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217494	NM_014330.5(PPP1R15A):c.1759C>T (p.Arg587Trp)	PPP1R15A (R587W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404703	NM_014330.5(PPP1R15A):c.1760G>C (p.Arg587Pro)	PPP1R15A (R587P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481324	NM_014330.5(PPP1R15A):c.1763A>T (p.Asp588Val)	PPP1R15A (D588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309359	NM_014330.5(PPP1R15A):c.1771C>G (p.Arg591Gly)	PPP1R15A (R591G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618870	NM_014330.5(PPP1R15A):c.1772G>A (p.Arg591His)	PPP1R15A (R591H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217495	NM_014330.5(PPP1R15A):c.1783C>T (p.Arg595Cys)	PPP1R15A (R595C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275679	NM_014330.5(PPP1R15A):c.1793A>G (p.Gln598Arg)	PPP1R15A (Q598R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217497	NM_014330.5(PPP1R15A):c.1795G>A (p.Ala599Thr)	PPP1R15A (A599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474921	NM_014330.5(PPP1R15A):c.1807C>A (p.Leu603Met)	PPP1R15A (L603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217498	NM_014330.5(PPP1R15A):c.1874C>A (p.Ala625Asp)	PPP1R15A (A625D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325805	NM_014330.5(PPP1R15A):c.1922C>G (p.Ser641Trp)	PPP1R15A (S641W)	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 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 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

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Items: 74