PPP1R37[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 2394308	NM_019121.2(PPP1R37):c.35C>T (p.Pro12Leu)	LOC130064671, PPP1R37 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604624	NM_019121.2(PPP1R37):c.91G>T (p.Ala31Ser)	LOC130064671, PPP1R37 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284752	NM_019121.2(PPP1R37):c.146C>G (p.Pro49Arg)	PPP1R37 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280814	NM_019121.2(PPP1R37):c.241A>C (p.Lys81Gln)	PPP1R37 (K81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321408	NM_019121.2(PPP1R37):c.250T>A (p.Cys84Ser)	PPP1R37 (C84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330893	NM_019121.2(PPP1R37):c.277C>G (p.Pro93Ala)	PPP1R37 (P93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361049	NM_019121.2(PPP1R37):c.316G>A (p.Gly106Arg)	PPP1R37 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320300	NM_019121.2(PPP1R37):c.328G>A (p.Asp110Asn)	PPP1R37 (D110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217635	NM_019121.2(PPP1R37):c.362A>G (p.Tyr121Cys)	PPP1R37 (Y121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309442	NM_019121.2(PPP1R37):c.368C>T (p.Thr123Ile)	PPP1R37 (T123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381475	NM_019121.2(PPP1R37):c.507C>G (p.Ile169Met)	PPP1R37 (I169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525773	NM_019121.2(PPP1R37):c.596G>A (p.Arg199His)	PPP1R37 (R199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350319	NM_019121.2(PPP1R37):c.602C>T (p.Thr201Met)	PPP1R37 (T201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511966	NM_019121.2(PPP1R37):c.623C>T (p.Ala208Val)	PPP1R37 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309444	NM_019121.2(PPP1R37):c.631G>T (p.Val211Leu)	PPP1R37 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319266	NM_019121.2(PPP1R37):c.637C>T (p.Arg213Cys)	PPP1R37 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217637	NM_019121.2(PPP1R37):c.640G>A (p.Ala214Thr)	PPP1R37 (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321544	NM_019121.2(PPP1R37):c.694T>A (p.Ser232Thr)	PPP1R37 (S232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357061	NM_019121.2(PPP1R37):c.701G>A (p.Arg234Gln)	PPP1R37 (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403439	NM_019121.2(PPP1R37):c.781G>A (p.Gly261Ser)	PPP1R37 (G261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309446	NM_019121.2(PPP1R37):c.851G>A (p.Arg284Gln)	PPP1R37 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337823	NM_019121.2(PPP1R37):c.909G>C (p.Gln303His)	PPP1R37 (Q303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217638	NM_019121.2(PPP1R37):c.966G>T (p.Met322Ile)	PPP1R37 (M322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489656	NM_019121.2(PPP1R37):c.988C>T (p.Pro330Ser)	PPP1R37 (P330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210763	NM_019121.2(PPP1R37):c.1030C>G (p.Pro344Ala)	PPP1R37 (P344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384984	NM_019121.2(PPP1R37):c.1033A>G (p.Ile345Val)	PPP1R37 (I345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595189	NM_019121.2(PPP1R37):c.1076G>A (p.Ser359Asn)	PPP1R37 (S359N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259021	NM_019121.2(PPP1R37):c.1079A>G (p.Asn360Ser)	PPP1R37 (N360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309438	NM_019121.2(PPP1R37):c.1178G>A (p.Arg393Lys)	PPP1R37 (R393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311082	NM_019121.2(PPP1R37):c.1189C>T (p.Arg397Trp)	PPP1R37 (R397W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621436	NM_019121.2(PPP1R37):c.1276C>T (p.Arg426Cys)	PPP1R37 (R426C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217624	NM_019121.2(PPP1R37):c.1286A>G (p.Lys429Arg)	PPP1R37 (K429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217625	NM_019121.2(PPP1R37):c.1311C>G (p.Ile437Met)	PPP1R37 (I437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309440	NM_019121.2(PPP1R37):c.1334C>G (p.Ala445Gly)	PPP1R37 (A445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542375	NM_019121.2(PPP1R37):c.1348G>A (p.Gly450Ser)	PPP1R37 (G450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473203	NM_019121.2(PPP1R37):c.1387G>C (p.Glu463Gln)	PPP1R37 (E463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342434	NM_019121.2(PPP1R37):c.1415C>T (p.Ala472Val)	PPP1R37 (A472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343880	NM_019121.2(PPP1R37):c.1465G>A (p.Ala489Thr)	PPP1R37 (A489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336003	NM_019121.2(PPP1R37):c.1486G>A (p.Ala496Thr)	PPP1R37 (A496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217626	NM_019121.2(PPP1R37):c.1498G>A (p.Ala500Thr)	PPP1R37 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554851	NM_019121.2(PPP1R37):c.1507C>G (p.Pro503Ala)	PPP1R37 (P503A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217627	NM_019121.2(PPP1R37):c.1525T>C (p.Ser509Pro)	PPP1R37 (S509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210059	NM_019121.2(PPP1R37):c.1526C>G (p.Ser509Trp)	PPP1R37 (S509W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389546	NM_019121.2(PPP1R37):c.1577C>T (p.Thr526Ile)	PPP1R37 (T526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217628	NM_019121.2(PPP1R37):c.1631G>A (p.Ser544Asn)	PPP1R37 (S544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608513	NM_019121.2(PPP1R37):c.1640G>A (p.Gly547Asp)	PPP1R37 (G547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217629	NM_019121.2(PPP1R37):c.1667G>A (p.Arg556Gln)	PPP1R37 (R556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217630	NM_019121.2(PPP1R37):c.1685C>G (p.Pro562Arg)	PPP1R37 (P562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315668	NM_019121.2(PPP1R37):c.1700A>G (p.Lys567Arg)	PPP1R37 (K567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329888	NM_019121.2(PPP1R37):c.1720G>C (p.Val574Leu)	PPP1R37 (V574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514893	NM_019121.2(PPP1R37):c.1735G>A (p.Glu579Lys)	PPP1R37 (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601165	NM_019121.2(PPP1R37):c.1746G>C (p.Glu582Asp)	PPP1R37 (E582D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466674	NM_019121.2(PPP1R37):c.1763C>T (p.Thr588Ile)	PPP1R37 (T588I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403337	NM_019121.2(PPP1R37):c.1767T>C (p.Pro589=)	PPP1R37	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2281331	NM_019121.2(PPP1R37):c.1774C>A (p.Pro592Thr)	PPP1R37 (P592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396626	NM_019121.2(PPP1R37):c.1798G>T (p.Ala600Ser)	PPP1R37 (A600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331231	NM_019121.2(PPP1R37):c.1813C>T (p.Pro605Ser)	PPP1R37 (P605S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548647	NM_019121.2(PPP1R37):c.1820C>T (p.Ala607Val)	PPP1R37 (A607V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309443	NM_019121.2(PPP1R37):c.1832A>C (p.Asp611Ala)	PPP1R37 (D611A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309441	NM_019121.2(PPP1R37):c.1837C>T (p.Arg613Trp)	PPP1R37 (R613W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217632	NM_019121.2(PPP1R37):c.1838G>A (p.Arg613Gln)	PPP1R37 (R613Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309447	NM_019121.2(PPP1R37):c.1870C>T (p.Pro624Ser)	PPP1R37 (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309439	NM_019121.2(PPP1R37):c.1871C>T (p.Pro624Leu)	PPP1R37 (P624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282419	NM_019121.2(PPP1R37):c.1918G>A (p.Glu640Lys)	PPP1R37 (E640K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334865	NM_019121.2(PPP1R37):c.1945C>T (p.Pro649Ser)	PPP1R37 (P649S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217633	NM_019121.2(PPP1R37):c.1946C>T (p.Pro649Leu)	PPP1R37 (P649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217634	NM_019121.2(PPP1R37):c.1981G>A (p.Gly661Ser)	PPP1R37 (G661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547142	NM_019121.2(PPP1R37):c.1997T>C (p.Leu666Pro)	PPP1R37 (L666P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 78