129285[geneid] - 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	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3217579	NM_001135629.3(PPP1R21):c.8C>T (p.Ser3Leu)	LOC129933722, PPP1R21 (S3L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3309400	NM_001135629.3(PPP1R21):c.109A>T (p.Asn37Tyr)	PPP1R21 (N37Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3217566	NM_001135629.3(PPP1R21):c.151T>G (p.Ser51Ala)	PPP1R21 (S51A)	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 disorder	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 3217572	NM_001135629.3(PPP1R21):c.204G>C (p.Gln68His)	PPP1R21 (Q68H)	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 disorder	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 3393503	NM_001135629.3(PPP1R21):c.224T>G (p.Leu75Arg)	PPP1R21 (L75R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 3037942	NM_001135629.3(PPP1R21):c.231A>G (p.Gln77=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related disorder	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 disorder	GBenign
Select item 3046676	NM_001135629.3(PPP1R21):c.258A>C (p.Arg86=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related disorder	GLikely benign
Select item 1233571	NM_001135629.3(PPP1R21):c.261C>G (p.Gly87=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	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 disorder	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 disorder	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 3217574	NM_001135629.3(PPP1R21):c.347T>C (p.Ile116Thr)	PPP1R21 (I116T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3309398	NM_001135629.3(PPP1R21):c.403C>T (p.His135Tyr)	PPP1R21 (H135Y)	Single nucleotide variant (missense variant +1 more)	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 disorder	GUncertain significance
Select item 3217575	NM_001135629.3(PPP1R21):c.422G>A (p.Arg141Lys)	PPP1R21 (R141K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174145	NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter)	PPP1R21 (R143*)	Single nucleotide variant (nonsense +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)	not specified +1 more	GUncertain significance
Select item 3250693	NM_001135629.3(PPP1R21):c.448G>C (p.Glu150Gln)	PPP1R21 (E150Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3423937	NM_001135629.3(PPP1R21):c.488G>A (p.Arg163Gln)	PPP1R21 (R163Q)	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)	Inborn genetic diseases	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 3217577	NM_001135629.3(PPP1R21):c.715C>G (p.Leu239Val)	PPP1R21 (L239V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3345217	NM_001135629.3(PPP1R21):c.748-9A>G	PPP1R21	Single nucleotide variant (intron variant)	PPP1R21-related disorder	GLikely benign
Select item 3393505	NM_001135629.3(PPP1R21):c.748-3A>G	PPP1R21	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 3423945	NM_001135629.3(PPP1R21):c.748C>A (p.Leu250Met)	PPP1R21 (L250M)	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 3362430	NM_001135629.3(PPP1R21):c.760G>A (p.Asp254Asn)	PPP1R21 (D254N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	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)	not specified +1 more	GUncertain significance
Select item 3217578	NM_001135629.3(PPP1R21):c.781G>A (p.Ala261Thr)	PPP1R21 (A261T)	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 3309402	NM_001135629.3(PPP1R21):c.793G>C (p.Asp265His)	PPP1R21 (D265H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049653	NM_001135629.3(PPP1R21):c.837G>A (p.Gln279=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	PPP1R21-related disorder	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 +1 more	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 3250719	NM_001135629.3(PPP1R21):c.924G>A (p.Ala308=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 disorder	GUncertain significance
Select item 3309401	NM_001135629.3(PPP1R21):c.1006A>G (p.Thr336Ala)	PPP1R21 (T336A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217563	NM_001135629.3(PPP1R21):c.1043C>T (p.Ser348Phe)	PPP1R21 (S348F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3217564	NM_001135629.3(PPP1R21):c.1127C>T (p.Ala376Val)	PPP1R21 (A376V)	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 3423946	NM_001135629.3(PPP1R21):c.1159G>T (p.Asp387Tyr)	PPP1R21 (D387Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3423954	NM_001135629.3(PPP1R21):c.1265C>T (p.Ser422Phe)	PPP1R21 (S422F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3423947	NM_001135629.3(PPP1R21):c.1267G>A (p.Val423Met)	PPP1R21 (V423M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3217565	NM_001135629.3(PPP1R21):c.1277A>G (p.Asn426Ser)	PPP1R21 (N426S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3423948	NM_001135629.3(PPP1R21):c.1280T>C (p.Val427Ala)	PPP1R21 (V427A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3423949	NM_001135629.3(PPP1R21):c.1289C>T (p.Ala430Val)	PPP1R21 (A430V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3423952	NM_001135629.3(PPP1R21):c.1414T>C (p.Ser472Pro)	PPP1R21 (S472P)	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)	not provided +1 more	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	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

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