ClinVar for Gene (Select 89801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236582	NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys)	PPP1R3F (N276K)	Single nucleotide variant (missense variant +1 more)	PPP1R3F Associated Neurodevelopmental Disorder	GUncertain significance
Select item 3235763	NM_033215.5(PPP1R3F):c.1004+6G>A	PPP1R3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3217697	NM_033215.5(PPP1R3F):c.967A>G (p.Arg323Gly)	PPP1R3F (R323G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217696	NM_033215.5(PPP1R3F):c.952G>A (p.Val318Met)	PPP1R3F (V318M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217695	NM_033215.5(PPP1R3F):c.917C>T (p.Pro306Leu)	PPP1R3F (P306L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217694	NM_033215.5(PPP1R3F):c.802C>T (p.Pro268Ser)	PPP1R3F (P268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217693	NM_033215.5(PPP1R3F):c.730G>C (p.Ala244Pro)	PPP1R3F (A244P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217692	NM_033215.5(PPP1R3F):c.715C>T (p.Arg239Cys)	PPP1R3F (R239C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217691	NM_033215.5(PPP1R3F):c.607C>G (p.Pro203Ala)	PPP1R3F (P203A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217690	NM_033215.5(PPP1R3F):c.374C>T (p.Pro125Leu)	PPP1R3F (P125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217689	NM_033215.5(PPP1R3F):c.317C>G (p.Pro106Arg)	PPP1R3F (P106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217688	NM_033215.5(PPP1R3F):c.2270C>T (p.Pro757Leu)	PPP1R3F (P411L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217687	NM_033215.5(PPP1R3F):c.2089G>A (p.Val697Ile)	PPP1R3F (V697I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217686	NM_033215.5(PPP1R3F):c.203C>T (p.Ala68Val)	PPP1R3F (A68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217685	NM_033215.5(PPP1R3F):c.1978G>T (p.Ala660Ser)	PPP1R3F (A660S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217684	NM_033215.5(PPP1R3F):c.1823C>G (p.Ser608Cys)	PPP1R3F (S262C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217683	NM_033215.5(PPP1R3F):c.171G>T (p.Trp57Cys)	LOC130068282, PPP1R3F (W57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217682	NM_033215.5(PPP1R3F):c.1684C>T (p.Arg562Cys)	PPP1R3F (R216C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217681	NM_033215.5(PPP1R3F):c.1565C>T (p.Pro522Leu)	PPP1R3F (P176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217680	NM_033215.5(PPP1R3F):c.1438G>T (p.Gly480Cys)	PPP1R3F (G480C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217679	NM_033215.5(PPP1R3F):c.1296C>A (p.Asp432Glu)	PPP1R3F (D432E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2692437	NM_033215.5(PPP1R3F):c.386A>G (p.Glu129Gly)	PPP1R3F (E129G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2660534	NM_033215.5(PPP1R3F):c.2346C>T (p.Ser782=)	PPP1R3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660533	NM_033215.5(PPP1R3F):c.929C>T (p.Pro310Leu)	PPP1R3F (P310L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2619203	NM_033215.5(PPP1R3F):c.942C>G (p.Cys314Trp)	PPP1R3F (C314W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612814	NM_033215.5(PPP1R3F):c.1058T>C (p.Met353Thr)	PPP1R3F (M8T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600337	NM_033215.5(PPP1R3F):c.676C>T (p.Pro226Ser)	PPP1R3F (P226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569487	NM_033215.5(PPP1R3F):c.994G>A (p.Val332Met)	PPP1R3F (V332M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569486	NM_033215.5(PPP1R3F):c.923T>C (p.Leu308Pro)	PPP1R3F (L308P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569485	NM_033215.5(PPP1R3F):c.662G>C (p.Gly221Ala)	PPP1R3F (G221A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569483	NM_033215.5(PPP1R3F):c.659C>T (p.Pro220Leu)	PPP1R3F (P220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569482	NM_033215.5(PPP1R3F):c.631A>C (p.Thr211Pro)	PPP1R3F (T211P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569481	NM_033215.5(PPP1R3F):c.622G>A (p.Ala208Thr)	PPP1R3F (A208T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569480	NM_033215.5(PPP1R3F):c.373C>T (p.Pro125Ser)	PPP1R3F (P125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559705	NM_033215.5(PPP1R3F):c.323C>T (p.Pro108Leu)	PPP1R3F (P108L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549829	NM_033215.5(PPP1R3F):c.646C>G (p.Pro216Ala)	PPP1R3F (P216A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545771	NM_033215.5(PPP1R3F):c.887C>A (p.Ala296Asp)	PPP1R3F (A296D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534488	NM_033215.5(PPP1R3F):c.89C>T (p.Ala30Val)	LOC130068282, PPP1R3F (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522159	NM_033215.5(PPP1R3F):c.40T>C (p.Ser14Pro)	LOC130068282, PPP1R3F (S14P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2520311	NM_033215.5(PPP1R3F):c.1385C>T (p.Ser462Leu)	PPP1R3F (S462L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508748	NM_033215.5(PPP1R3F):c.667G>A (p.Gly223Ser)	PPP1R3F (G223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2479985	NM_033215.5(PPP1R3F):c.1963A>G (p.Met655Val)	PPP1R3F (M309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476060	NM_033215.5(PPP1R3F):c.1972G>T (p.Val658Leu)	PPP1R3F (V658L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466821	NM_033215.5(PPP1R3F):c.77C>T (p.Thr26Ile)	LOC130068282, PPP1R3F (T26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2406777	NM_033215.5(PPP1R3F):c.398G>A (p.Arg133His)	PPP1R3F (R133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388051	NM_033215.5(PPP1R3F):c.1001G>A (p.Arg334His)	PPP1R3F (R334H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370124	NM_033215.5(PPP1R3F):c.1316C>T (p.Ala439Val)	PPP1R3F (A439V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360995	NM_033215.5(PPP1R3F):c.1012G>A (p.Glu338Lys)	PPP1R3F (E338K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359549	NM_033215.5(PPP1R3F):c.224G>A (p.Gly75Asp)	PPP1R3F (G75D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351800	NM_033215.5(PPP1R3F):c.167C>G (p.Pro56Arg)	LOC130068282, PPP1R3F (P56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347791	NM_033215.5(PPP1R3F):c.202G>A (p.Ala68Thr)	PPP1R3F (A68T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328050	NM_033215.5(PPP1R3F):c.208G>C (p.Gly70Arg)	PPP1R3F (G70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318634	NM_033215.5(PPP1R3F):c.1333G>A (p.Gly445Arg)	PPP1R3F (G99R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317715	NM_033215.5(PPP1R3F):c.1595G>A (p.Arg532His)	PPP1R3F (R532H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308567	NM_033215.5(PPP1R3F):c.783C>A (p.Phe261Leu)	PPP1R3F (F261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304866	NM_033215.5(PPP1R3F):c.2278C>T (p.Arg760Trp)	PPP1R3F (R414W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289941	NM_033215.5(PPP1R3F):c.2159C>T (p.Ala720Val)	PPP1R3F (A374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282810	NM_033215.5(PPP1R3F):c.731C>T (p.Ala244Val)	PPP1R3F (A244V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254611	NM_033215.5(PPP1R3F):c.2203A>G (p.Ser735Gly)	PPP1R3F (S735G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249462	NM_033215.5(PPP1R3F):c.274G>A (p.Glu92Lys)	PPP1R3F (E92K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243673	NM_033215.5(PPP1R3F):c.839A>G (p.Asn280Ser)	PPP1R3F (N280S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209337	NM_033215.5(PPP1R3F):c.1157C>T (p.Pro386Leu)	PPP1R3F (P386L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207770	NM_033215.5(PPP1R3F):c.533C>T (p.Ala178Val)	PPP1R3F (A178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206056	NM_033215.5(PPP1R3F):c.58G>A (p.Ala20Thr)	LOC130068282, PPP1R3F (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	PPP1R3F, PRICKLE3 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1239227	NM_033215.5(PPP1R3F):c.324C>T (p.Pro108=)	PPP1R3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	TIMM17B, USP27X +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 783080	NM_033215.5(PPP1R3F):c.1152C>T (p.Asp384=)	PPP1R3F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782934	NM_033215.5(PPP1R3F):c.651C>T (p.Ile217=)	PPP1R3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic

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