ClinVar for Gene (Select 9701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309576	NM_001242898.2(PPP6R2):c.2852A>G (p.Glu951Gly)	LOC130067853, PPP6R2 (E923G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309575	NM_001242898.2(PPP6R2):c.995T>A (p.Ile332Asn)	PPP6R2 (I332N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309574	NM_001242898.2(PPP6R2):c.2459G>A (p.Gly820Asp)	PPP6R2 (G793D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309573	NM_001242898.2(PPP6R2):c.2006G>A (p.Gly669Asp)	PPP6R2 (G641D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309572	NM_001242898.2(PPP6R2):c.1526C>T (p.Ala509Val)	PPP6R2 (A347V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309571	NM_001242898.2(PPP6R2):c.2474A>G (p.Asp825Gly)	PPP6R2 (D663G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309570	NM_001242898.2(PPP6R2):c.2472G>T (p.Glu824Asp)	PPP6R2 (E824D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309569	NM_001242898.2(PPP6R2):c.472G>A (p.Gly158Ser)	PPP6R2 (G158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309568	NM_001242898.2(PPP6R2):c.313C>G (p.Leu105Val)	LOC126863186, PPP6R2 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309567	NM_001242898.2(PPP6R2):c.2131G>A (p.Ala711Thr)	PPP6R2 (A522T +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309565	NM_001242898.2(PPP6R2):c.2479G>A (p.Asp827Asn)	PPP6R2 (D799N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217916	NM_001242898.2(PPP6R2):c.443A>G (p.Lys148Arg)	PPP6R2 (K148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217915	NM_001242898.2(PPP6R2):c.2797A>G (p.Met933Val)	LOC130067853, PPP6R2 (M905V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217914	NM_001242898.2(PPP6R2):c.2488G>A (p.Ala830Thr)	PPP6R2 (A830T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217913	NM_001242898.2(PPP6R2):c.2450C>T (p.Ser817Phe)	PPP6R2 (S628F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217912	NM_001242898.2(PPP6R2):c.2362C>T (p.Pro788Ser)	PPP6R2 (P626S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217911	NM_001242898.2(PPP6R2):c.2062C>A (p.Pro688Thr)	PPP6R2 (P499T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217910	NM_001242898.2(PPP6R2):c.1945C>T (p.Arg649Trp)	PPP6R2 (R460W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217909	NM_001242898.2(PPP6R2):c.187C>G (p.Gln63Glu)	PPP6R2 (Q63E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217908	NM_001242898.2(PPP6R2):c.1673C>A (p.Ser558Tyr)	PPP6R2 (S558Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217907	NM_001242898.2(PPP6R2):c.1583G>A (p.Arg528His)	PPP6R2 (R529H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217906	NM_001242898.2(PPP6R2):c.1454A>G (p.Asn485Ser)	PPP6R2 (N484S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217905	NM_001242898.2(PPP6R2):c.1259C>T (p.Pro420Leu)	PPP6R2 (P421L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024724	NM_001242898.2(PPP6R2):c.1594G>A (p.Val532Met)	PPP6R2 (V370M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684943	GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3	ADM2, CHKB +12 more	Copy number gain	not provided	GUncertain significance
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653387	NM_001242898.2(PPP6R2):c.2508G>A (p.Ala836=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653386	NM_001242898.2(PPP6R2):c.2478C>T (p.Gly826=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653385	NM_001242898.2(PPP6R2):c.2345G>A (p.Gly782Asp)	PPP6R2 (G593D +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653384	NM_001242898.2(PPP6R2):c.1929C>T (p.Asp643=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653383	NM_001242898.2(PPP6R2):c.1770C>T (p.Asp590=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653382	NM_001242898.2(PPP6R2):c.1421G>A (p.Arg474His)	PPP6R2 (R312H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653381	NM_001242898.2(PPP6R2):c.1401-535C>T	PPP6R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2602070	NM_001242898.2(PPP6R2):c.1493C>T (p.Thr498Met)	PPP6R2 (T497M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598000	NM_001242898.2(PPP6R2):c.2599C>T (p.Arg867Trp)	PPP6R2 (R840W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595975	NM_001242898.2(PPP6R2):c.2381C>T (p.Pro794Leu)	PPP6R2 (P605L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595571	NM_001242898.2(PPP6R2):c.2624C>T (p.Ala875Val)	PPP6R2 (A849V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593805	NM_001242898.2(PPP6R2):c.2847G>A (p.Pro949=)	LOC130067853, PPP6R2 (R922H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2589868	NM_001242898.2(PPP6R2):c.2305T>A (p.Cys769Ser)	PPP6R2 (C580S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2558693	NM_001242898.2(PPP6R2):c.1940C>T (p.Ala647Val)	PPP6R2 (A458V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553442	NM_001242898.2(PPP6R2):c.1924A>G (p.Ser642Gly)	PPP6R2 (S643G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537038	NM_001242898.2(PPP6R2):c.2528G>A (p.Arg843Gln)	PPP6R2 (R654Q +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535360	NM_001242898.2(PPP6R2):c.2600G>A (p.Arg867Gln)	PPP6R2 (R840Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528577	NM_001242898.2(PPP6R2):c.684G>C (p.Gln228His)	PPP6R2 (Q66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523692	NM_001242898.2(PPP6R2):c.1483C>A (p.Pro495Thr)	PPP6R2 (P495T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518191	NM_001242898.2(PPP6R2):c.1801G>A (p.Ala601Thr)	PPP6R2 (A412T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509607	NM_001242898.2(PPP6R2):c.2540C>T (p.Pro847Leu)	PPP6R2 (P685L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485949	NM_001242898.2(PPP6R2):c.1861G>A (p.Ala621Thr)	PPP6R2 (A593T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485501	NM_001242898.2(PPP6R2):c.2377A>C (p.Ser793Arg)	PPP6R2 (S767R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482467	NM_001242898.2(PPP6R2):c.1688T>C (p.Phe563Ser)	PPP6R2 (F401S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482466	NM_001242898.2(PPP6R2):c.1687T>G (p.Phe563Val)	PPP6R2 (F401V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457536	NM_001242898.2(PPP6R2):c.523C>T (p.Pro175Ser)	PPP6R2 (P13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	ADM2, ALG12 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	ADM2, ALG12 +31 more	Deletion	not provided	GPathogenic
Select item 2405128	NM_001242898.2(PPP6R2):c.2559G>C (p.Arg853Ser)	PPP6R2 (R854S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393168	NM_001242898.2(PPP6R2):c.910G>A (p.Val304Ile)	PPP6R2 (V304I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392117	NM_001242898.2(PPP6R2):c.2713G>A (p.Ala905Thr)	PPP6R2 (A743T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386731	NM_001242898.2(PPP6R2):c.2788G>A (p.Ala930Thr)	LOC130067853, PPP6R2 (A904T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378454	NM_001242898.2(PPP6R2):c.2304G>C (p.Arg768Ser)	PPP6R2 (R740S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378377	NM_001242898.2(PPP6R2):c.1306A>G (p.Ser436Gly)	PPP6R2 (S435G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370964	NM_001242898.2(PPP6R2):c.502C>T (p.Arg168Cys)	PPP6R2 (R6C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369787	NM_001242898.2(PPP6R2):c.1285G>A (p.Glu429Lys)	PPP6R2 (E267K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2366289	NM_001242898.2(PPP6R2):c.1276C>T (p.Arg426Trp)	PPP6R2 (R425W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359818	NM_001242898.2(PPP6R2):c.2474A>T (p.Asp825Val)	PPP6R2 (D663V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351950	NM_001242898.2(PPP6R2):c.995T>C (p.Ile332Thr)	PPP6R2 (I170T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338244	NM_001242898.2(PPP6R2):c.1069A>G (p.Asn357Asp)	PPP6R2 (N195D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332820	NM_001242898.2(PPP6R2):c.2839G>C (p.Asp947His)	LOC130067853, PPP6R2 (D948H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330857	NM_001242898.2(PPP6R2):c.778C>T (p.Arg260Trp)	PPP6R2 (R260W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329194	NM_001242898.2(PPP6R2):c.2443A>T (p.Ser815Cys)	PPP6R2 (S626C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277828	NM_001242898.2(PPP6R2):c.1450G>A (p.Ala484Thr)	PPP6R2 (A483T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271712	NM_001242898.2(PPP6R2):c.286C>G (p.Leu96Val)	LOC126863186, PPP6R2 (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270478	NM_001242898.2(PPP6R2):c.1324A>G (p.Met442Val)	PPP6R2 (M280V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262220	NM_001242898.2(PPP6R2):c.1046T>G (p.Leu349Arg)	PPP6R2 (L187R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255593	NM_001242898.2(PPP6R2):c.2518G>A (p.Gly840Ser)	PPP6R2 (G651S +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248286	NM_001242898.2(PPP6R2):c.1504G>A (p.Glu502Lys)	PPP6R2 (E340K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245419	NM_001242898.2(PPP6R2):c.1007A>T (p.Glu336Val)	PPP6R2 (E335V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239858	NM_001242898.2(PPP6R2):c.2524G>A (p.Gly842Ser)	PPP6R2 (G680S +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237052	NM_001242898.2(PPP6R2):c.1541G>A (p.Arg514His)	PPP6R2 (R352H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221839	NM_001242898.2(PPP6R2):c.2380C>A (p.Pro794Thr)	PPP6R2 (P768T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221305	NM_001242898.2(PPP6R2):c.2602C>A (p.Leu868Met)	PPP6R2 (L679M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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