PPP1R21[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 2619442	NM_001135629.3(PPP1R21):c.53C>G (p.Ser18Trp)	PPP1R21 (S18W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174146	NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs)	PPP1R21 (G30fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2572420	NM_001135629.3(PPP1R21):c.126+2T>C	PPP1R21	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 2309213	NM_001135629.3(PPP1R21):c.127-3T>C	PPP1R21	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391192	NM_001135629.3(PPP1R21):c.143A>G (p.Lys48Arg)	PPP1R21 (K48R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040034	NM_001135629.3(PPP1R21):c.154T>C (p.Leu52=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2314468	NM_001135629.3(PPP1R21):c.182G>C (p.Ser61Thr)	PPP1R21 (S61T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174150	NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter)	PPP1R21 (R65*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2260912	NM_001135629.3(PPP1R21):c.194G>A (p.Arg65Gln)	PPP1R21 (R65Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3029736	NM_001135629.3(PPP1R21):c.223C>A (p.Leu75Ile)	PPP1R21 (L75I)	Single nucleotide variant (missense variant +1 more)	PPP1R21-related condition	GUncertain significance
Select item 2346567	NM_001135629.3(PPP1R21):c.223C>G (p.Leu75Val)	PPP1R21 (L75V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037942	NM_001135629.3(PPP1R21):c.231A>G (p.Gln77=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2351528	NM_001135629.3(PPP1R21):c.242C>T (p.Ala81Val)	PPP1R21 (A81V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3038850	NM_001135629.3(PPP1R21):c.243T>C (p.Ala81=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GBenign
Select item 3046676	NM_001135629.3(PPP1R21):c.258A>C (p.Arg86=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 1233571	NM_001135629.3(PPP1R21):c.261C>G (p.Gly87=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2255386	NM_001135629.3(PPP1R21):c.262A>G (p.Lys88Glu)	PPP1R21 (K88E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3053103	NM_001135629.3(PPP1R21):c.285A>G (p.Glu95=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2366802	NM_001135629.3(PPP1R21):c.286TCT[2] (p.Ser98del)	PPP1R21 (S98del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058520	NM_001135629.3(PPP1R21):c.298T>C (p.Leu100=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2171576	NM_001135629.3(PPP1R21):c.310C>T (p.Gln104Ter)	PPP1R21 (Q104*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2365168	NM_001135629.3(PPP1R21):c.319G>A (p.Val107Ile)	PPP1R21 (V107I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026584	NM_001135629.3(PPP1R21):c.336G>A (p.Leu112=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1174147	NM_001135629.3(PPP1R21):c.347del (p.Ile116fs)	PPP1R21 (I116fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2254372	NM_001135629.3(PPP1R21):c.376-5T>G	PPP1R21	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2302092	NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)	PPP1R21 (E139*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2302093	NM_001135629.3(PPP1R21):c.416A>T (p.Glu139Val)	PPP1R21 (E139V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034145	NM_001135629.3(PPP1R21):c.418C>A (p.Leu140Met)	PPP1R21 (L140M)	Single nucleotide variant (missense variant +1 more)	PPP1R21-related condition	GUncertain significance
Select item 1174145	NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter)	PPP1R21 (R143*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2462430	NM_001135629.3(PPP1R21):c.428G>A (p.Arg143Gln)	PPP1R21 (R143Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1298806	NM_001135629.3(PPP1R21):c.520A>G (p.Asn174Asp)	PPP1R21 (N174D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675780	NM_001135629.3(PPP1R21):c.522C>T (p.Asn174=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 844226	NM_001135629.3(PPP1R21):c.541-2A>G	PPP1R21	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 778259	NM_001135629.3(PPP1R21):c.600-4G>T	PPP1R21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3058374	NM_001135629.3(PPP1R21):c.677T>C (p.Val226Ala)	PPP1R21 (V226A)	Single nucleotide variant (missense variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2375992	NM_001135629.3(PPP1R21):c.710A>G (p.Asn237Ser)	PPP1R21 (N237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375993	NM_001135629.3(PPP1R21):c.754A>G (p.Met252Val)	PPP1R21 (M252V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584981	NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)	PPP1R21 (I255fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 2462431	NM_001135629.3(PPP1R21):c.764T>C (p.Ile255Thr)	PPP1R21 (I255T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053317	NM_001135629.3(PPP1R21):c.787G>T (p.Val263Phe)	PPP1R21 (V263F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3049653	NM_001135629.3(PPP1R21):c.837G>A (p.Gln279=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2320358	NM_001135629.3(PPP1R21):c.837G>C (p.Gln279His)	PPP1R21 (Q279H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375617	NM_001135629.3(PPP1R21):c.877A>G (p.Ile293Val)	PPP1R21 (I293V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476800	NM_001135629.3(PPP1R21):c.892C>G (p.Gln298Glu)	PPP1R21 (Q298E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223548	NM_001135629.3(PPP1R21):c.937C>T (p.Pro313Ser)	PPP1R21 (P313S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634883	NM_001135629.3(PPP1R21):c.971G>A (p.Ser324Asn)	PPP1R21 (S324N)	Single nucleotide variant (missense variant +1 more)	PPP1R21-related condition	GUncertain significance
Select item 2532439	NM_001135629.3(PPP1R21):c.1097A>C (p.Glu366Ala)	PPP1R21 (E366A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377543	NM_001135629.3(PPP1R21):c.1117T>C (p.Cys373Arg)	PPP1R21 (C373R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519633	NM_001135629.3(PPP1R21):c.1140G>T (p.Arg380Ser)	PPP1R21 (R380S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520509	NM_001135629.3(PPP1R21):c.1147G>C (p.Glu383Gln)	PPP1R21 (E383Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650893	NM_001135629.3(PPP1R21):c.1150C>G (p.Leu384Val)	PPP1R21 (L384V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1333266	NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)	PPP1R21	Deletion (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 715561	NM_001135629.3(PPP1R21):c.1204A>G (p.Ile402Val)	PPP1R21 (I402V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1298807	NM_001135629.3(PPP1R21):c.1226-1G>C	PPP1R21	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2622771	NM_001135629.3(PPP1R21):c.1309G>A (p.Val437Ile)	PPP1R21 (V437I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1291695	NM_001135629.3(PPP1R21):c.1326C>T (p.Ser442=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2531492	NM_001135629.3(PPP1R21):c.1331A>G (p.His444Arg)	PPP1R21 (H444R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373864	NM_001135629.3(PPP1R21):c.1331A>T (p.His444Leu)	PPP1R21 (H444L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467867	NM_001135629.3(PPP1R21):c.1351A>G (p.Ile451Val)	PPP1R21 (I451V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650894	NM_001135629.3(PPP1R21):c.1357C>A (p.His453Asn)	PPP1R21 (H453N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2366352	NM_001135629.3(PPP1R21):c.1357C>T (p.His453Tyr)	PPP1R21 (H453Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301350	NM_001135629.3(PPP1R21):c.1446+3A>G	PPP1R21	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3065136	NM_001135629.3(PPP1R21):c.1448T>G (p.Ile483Ser)	PPP1R21 (I483S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely benign
Select item 2351977	NM_001135629.3(PPP1R21):c.1469A>G (p.Asn490Ser)	PPP1R21 (N490S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723818	NM_001135629.3(PPP1R21):c.1499A>G (p.Tyr500Cys)	PPP1R21 (Y500C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1335391	NM_001135629.3(PPP1R21):c.1515G>A (p.Ala505=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619441	NM_001135629.3(PPP1R21):c.1569A>T (p.Lys523Asn)	PPP1R21 (K523N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486743	NM_001135629.3(PPP1R21):c.1577C>A (p.Ala526Asp)	PPP1R21 (A526D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174149	NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs)	PPP1R21 (L536fs)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2367608	NM_001135629.3(PPP1R21):c.1629A>C (p.Glu543Asp)	PPP1R21 (E543D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2390669	NM_001135629.3(PPP1R21):c.1642C>T (p.Arg548Cys)	PPP1R21 (R548C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1315784	NM_001135629.3(PPP1R21):c.1645C>T (p.Arg549Cys)	PPP1R21 (R549C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2248516	NM_001135629.3(PPP1R21):c.1646G>A (p.Arg549His)	PPP1R21 (R549H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3058526	NM_001135629.3(PPP1R21):c.1665T>A (p.Thr555=)	PPP1R21	Single nucleotide variant (synonymous variant +2 more)	PPP1R21-related condition	GLikely benign
Select item 719964	NM_001135629.3(PPP1R21):c.1679G>T (p.Gly560Val)	PPP1R21 (G560V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1693297	NM_001135629.3(PPP1R21):c.1728G>T (p.Glu576Asp)	PPP1R21 (E545D +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GUncertain significance
Select item 2269426	NM_001135629.3(PPP1R21):c.1738G>C (p.Glu580Gln)	PPP1R21 (E580Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596747	NM_001135629.3(PPP1R21):c.1741C>T (p.His581Tyr)	PPP1R21 (H581Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650895	NM_001135629.3(PPP1R21):c.1745G>T (p.Trp582Leu)	PPP1R21 (W551L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650896	NM_001135629.3(PPP1R21):c.1797A>T (p.Arg599=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3032166	NM_001135629.3(PPP1R21):c.1803A>C (p.Ala601=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 1990521	NM_001135629.3(PPP1R21):c.1807A>G (p.Lys603Glu)	PPP1R21 (K572E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2247216	NM_001135629.3(PPP1R21):c.1846G>A (p.Ala616Thr)	PPP1R21 (A585T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049990	NM_001135629.3(PPP1R21):c.1856A>G (p.Asn619Ser)	PPP1R21 (N588S +1 more)	Single nucleotide variant (missense variant +1 more)	PPP1R21-related condition	GLikely benign
Select item 2637432	NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter)	PPP1R21 (S592* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2620608	NM_001135629.3(PPP1R21):c.1897G>A (p.Ala633Thr)	PPP1R21 (A633T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737591	NM_001135629.3(PPP1R21):c.1917C>G (p.Pro639=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1694957	NM_001135629.3(PPP1R21):c.1969-6A>G	PPP1R21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149078	NM_001135629.3(PPP1R21):c.1981G>T (p.Glu661Ter)	PPP1R21 (E650* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 870419	NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs)	PPP1R21 (K646fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174144	NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter)	PPP1R21 (R697* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2539127	NM_001135629.3(PPP1R21):c.2110G>A (p.Ala704Thr)	PPP1R21 (A693T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401517	NM_001135629.3(PPP1R21):c.2159C>A (p.Ala720Asp)	PPP1R21 (A678D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233677	NM_001135629.3(PPP1R21):c.2165A>G (p.Gln722Arg)	PPP1R21 (Q711R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174148	NM_001135629.3(PPP1R21):c.2170_2171insGGTA (p.Ile724fs)	PPP1R21 (I682fs +2 more)	Insertion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic

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