ClinVar for Gene (Select 55607) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217742	NM_001166160.2(PPP1R9A):c.609T>A (p.Ser203Arg)	PPP1R9A (S203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217741	NM_001166160.2(PPP1R9A):c.431A>C (p.Lys144Thr)	PPP1R9A (K144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217740	NM_001166160.2(PPP1R9A):c.3995G>A (p.Arg1332Gln)	PPP1R9A (R1211Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217739	NM_001166160.2(PPP1R9A):c.3506C>T (p.Thr1169Ile)	PPP1R9A (T1169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217738	NM_001166160.2(PPP1R9A):c.3478G>A (p.Asp1160Asn)	PPP1R9A (D1120N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217737	NM_001166160.2(PPP1R9A):c.3401G>A (p.Arg1134Gln)	PPP1R9A (R1112Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217736	NM_001166160.2(PPP1R9A):c.3394G>A (p.Asp1132Asn)	PPP1R9A (D1092N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217735	NM_001166160.2(PPP1R9A):c.3211G>A (p.Gly1071Arg)	PPP1R9A (G1031R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217733	NM_001166160.2(PPP1R9A):c.3020T>C (p.Met1007Thr)	LOC126860112, PPP1R9A (M985T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217732	NM_001166160.2(PPP1R9A):c.3019A>G (p.Met1007Val)	LOC126860112, PPP1R9A (M1007V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217731	NM_001166160.2(PPP1R9A):c.3004G>T (p.Gly1002Trp)	LOC126860112, PPP1R9A (G962W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217730	NM_001166160.2(PPP1R9A):c.2935G>A (p.Asp979Asn)	LOC126860112, PPP1R9A (D957N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217729	NM_001166160.2(PPP1R9A):c.2930C>T (p.Pro977Leu)	LOC126860112, PPP1R9A (P955L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217728	NM_001166160.2(PPP1R9A):c.2899G>A (p.Glu967Lys)	LOC126860112, PPP1R9A (E945K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217727	NM_001166160.2(PPP1R9A):c.2867T>G (p.Leu956Arg)	LOC126860112, PPP1R9A (L956R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217726	NM_001166160.2(PPP1R9A):c.2566A>G (p.Ile856Val)	PPP1R9A (I834V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217725	NM_001166160.2(PPP1R9A):c.1345G>A (p.Glu449Lys)	PPP1R9A (E449K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217724	NM_001166160.2(PPP1R9A):c.1340A>C (p.Glu447Ala)	PPP1R9A (E447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217723	NM_001166160.2(PPP1R9A):c.1325T>C (p.Ile442Thr)	PPP1R9A (I442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217722	NM_001166160.2(PPP1R9A):c.1310T>C (p.Met437Thr)	PPP1R9A (M437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217721	NM_001166160.2(PPP1R9A):c.1264G>A (p.Asp422Asn)	PPP1R9A (D422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217720	NM_001166160.2(PPP1R9A):c.1190T>C (p.Met397Thr)	PPP1R9A (M397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217718	NM_001166160.2(PPP1R9A):c.1009C>T (p.Pro337Ser)	PPP1R9A (P337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061005	NM_001166160.2(PPP1R9A):c.3236G>A (p.Ser1079Asn)	PPP1R9A (S1039N +2 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder	GBenign
Select item 3060118	NM_001166160.2(PPP1R9A):c.111C>T (p.Pro37=)	PPP1R9A	Single nucleotide variant (synonymous variant)	PPP1R9A-related disorder	GBenign
Select item 3060071	NM_001166160.2(PPP1R9A):c.4035A>G (p.Leu1345=)	PPP1R9A	Single nucleotide variant (synonymous variant)	PPP1R9A-related disorder	GBenign
Select item 3059917	NM_001166160.2(PPP1R9A):c.1102G>A (p.Asp368Asn)	PPP1R9A (D368N)	Single nucleotide variant (missense variant)	PPP1R9A-related disorder	GBenign
Select item 3058883	NM_001166160.2(PPP1R9A):c.3116G>A (p.Arg1039Gln)	LOC126860112, PPP1R9A (R1017Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder	GBenign
Select item 3058001	NM_001166160.2(PPP1R9A):c.1362T>C (p.Asn454=)	PPP1R9A	Single nucleotide variant (synonymous variant)	PPP1R9A-related disorder	GLikely benign
Select item 3055521	NM_001166160.2(PPP1R9A):c.2480G>C (p.Gly827Ala)	PPP1R9A (G805A +1 more)	Single nucleotide variant (missense variant)	PPP1R9A-related disorder	GBenign
Select item 3051854	NM_001166160.2(PPP1R9A):c.3860C>A (p.Ala1287Asp)	PPP1R9A (A1003D +3 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder	GLikely benign
Select item 3051451	NM_001166160.2(PPP1R9A):c.3216G>A (p.Ala1072=)	PPP1R9A	Single nucleotide variant (synonymous variant +1 more)	PPP1R9A-related disorder	GLikely benign
Select item 3048567	NM_001166160.2(PPP1R9A):c.393C>T (p.Tyr131=)	PPP1R9A	Single nucleotide variant (synonymous variant)	PPP1R9A-related disorder	GLikely benign
Select item 3044473	NM_001166160.2(PPP1R9A):c.1198G>A (p.Asp400Asn)	PPP1R9A (D400N)	Single nucleotide variant (missense variant)	PPP1R9A-related disorder	GLikely benign
Select item 3041912	NM_001166160.2(PPP1R9A):c.4104C>T (p.Ala1368=)	PPP1R9A	Single nucleotide variant (synonymous variant)	PPP1R9A-related disorder	GLikely benign
Select item 3041179	NM_001166160.2(PPP1R9A):c.3293G>A (p.Ser1098Asn)	PPP1R9A (S1058N +2 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder	GBenign
Select item 3037786	NM_001166160.2(PPP1R9A):c.3124+9A>C	LOC126860112, PPP1R9A	Single nucleotide variant (intron variant)	PPP1R9A-related disorder	GBenign
Select item 3037410	NM_001166160.2(PPP1R9A):c.2493+4A>C	PPP1R9A	Single nucleotide variant (intron variant)	PPP1R9A-related disorder	GBenign
Select item 3037317	NM_001166160.2(PPP1R9A):c.2889G>A (p.Thr963=)	LOC126860112, PPP1R9A	Single nucleotide variant (synonymous variant +1 more)	PPP1R9A-related disorder	GLikely benign
Select item 3031615	NM_001166160.2(PPP1R9A):c.1162A>C (p.Asn388His)	PPP1R9A (N388H)	Single nucleotide variant (missense variant)	PPP1R9A-related disorder	GLikely benign
Select item 2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	ASB4, C7orf76 +7 more	Copy number loss	not provided	GPathogenic
Select item 2657687	NM_001166160.2(PPP1R9A):c.2750G>A (p.Arg917His)	PPP1R9A (R895H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657686	NM_001166160.2(PPP1R9A):c.802A>T (p.Thr268Ser)	PPP1R9A (T268S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621078	NM_001166160.2(PPP1R9A):c.935C>G (p.Thr312Ser)	PPP1R9A (T312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606255	NM_001166160.2(PPP1R9A):c.1093G>A (p.Ala365Thr)	PPP1R9A (A365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604081	NM_001166160.2(PPP1R9A):c.931C>G (p.Gln311Glu)	PPP1R9A (Q311E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603925	NM_001166160.2(PPP1R9A):c.3275G>A (p.Ser1092Asn)	PPP1R9A (S1092N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600370	NM_001166160.2(PPP1R9A):c.2696G>C (p.Arg899Pro)	PPP1R9A (R877P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564879	NM_001166160.2(PPP1R9A):c.3560T>G (p.Phe1187Cys)	PPP1R9A (F1187C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561047	NM_001166160.2(PPP1R9A):c.1522G>C (p.Glu508Gln)	PPP1R9A, PPP1R9A-AS1 (E508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556884	NM_001166160.2(PPP1R9A):c.3014C>T (p.Ser1005Phe)	LOC126860112, PPP1R9A (S983F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542290	NM_001166160.2(PPP1R9A):c.1886A>G (p.Asp629Gly)	PPP1R9A, PPP1R9A-AS1 (D629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535359	NM_001166160.2(PPP1R9A):c.1907T>G (p.Leu636Trp)	PPP1R9A, PPP1R9A-AS1 (L636W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533486	NM_001166160.2(PPP1R9A):c.581G>C (p.Arg194Pro)	PPP1R9A (R194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482883	NM_001166160.2(PPP1R9A):c.3193C>T (p.Arg1065Trp)	PPP1R9A (R1043W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473626	NM_001166160.2(PPP1R9A):c.2069C>T (p.Pro690Leu)	PPP1R9A (P690L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473505	NM_001166160.2(PPP1R9A):c.34A>G (p.Thr12Ala)	PPP1R9A (T12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470417	NM_001166160.2(PPP1R9A):c.1900G>A (p.Ala634Thr)	PPP1R9A, PPP1R9A-AS1 (A634T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458283	NM_001166160.2(PPP1R9A):c.2548G>A (p.Val850Ile)	PPP1R9A (V850I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408583	NM_001166160.2(PPP1R9A):c.233A>G (p.Asn78Ser)	PPP1R9A (N78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403334	NM_001166160.2(PPP1R9A):c.3941G>A (p.Arg1314Gln)	PPP1R9A (R1030Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376624	NM_001166160.2(PPP1R9A):c.350A>G (p.Glu117Gly)	PPP1R9A (E117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373333	NM_001166160.2(PPP1R9A):c.460G>A (p.Gly154Arg)	PPP1R9A (G154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371500	NM_001166160.2(PPP1R9A):c.1289A>G (p.Asn430Ser)	PPP1R9A (N430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365408	NM_001166160.2(PPP1R9A):c.1048A>G (p.Asn350Asp)	PPP1R9A (N350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353200	NM_001166160.2(PPP1R9A):c.3090C>A (p.His1030Gln)	LOC126860112, PPP1R9A (H990Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335085	NM_001166160.2(PPP1R9A):c.1055T>C (p.Val352Ala)	PPP1R9A (V352A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333703	NM_001166160.2(PPP1R9A):c.731C>A (p.Thr244Lys)	PPP1R9A (T244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324178	NM_001166160.2(PPP1R9A):c.1993G>A (p.Val665Ile)	PPP1R9A (V643I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323703	NM_001166160.2(PPP1R9A):c.1211A>G (p.Tyr404Cys)	PPP1R9A (Y404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315994	NM_001166160.2(PPP1R9A):c.812C>T (p.Ala271Val)	PPP1R9A (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314273	NM_001166160.2(PPP1R9A):c.847G>C (p.Ala283Pro)	PPP1R9A (A283P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308465	NM_001166160.2(PPP1R9A):c.4121A>G (p.Gln1374Arg)	PPP1R9A (Q1296R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302773	NM_001166160.2(PPP1R9A):c.1126G>T (p.Ala376Ser)	PPP1R9A (A376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299993	NM_001166160.2(PPP1R9A):c.2720C>G (p.Thr907Ser)	PPP1R9A (T907S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292968	NM_001166160.2(PPP1R9A):c.1908G>T (p.Leu636Phe)	PPP1R9A, PPP1R9A-AS1 (L636F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285457	NM_001166160.2(PPP1R9A):c.2939G>A (p.Ser980Asn)	LOC126860112, PPP1R9A (S940N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278872	NM_001166160.2(PPP1R9A):c.1422C>G (p.Asp474Glu)	PPP1R9A, PPP1R9A-AS1 (D474E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278681	NM_001166160.2(PPP1R9A):c.1298A>G (p.Tyr433Cys)	PPP1R9A (Y433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276195	NM_001166160.2(PPP1R9A):c.2063T>A (p.Phe688Tyr)	PPP1R9A (F666Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274240	NM_001166160.2(PPP1R9A):c.125A>T (p.Glu42Val)	PPP1R9A (E42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273823	NM_001166160.2(PPP1R9A):c.2817G>C (p.Glu939Asp)	LOC126860112, PPP1R9A (E917D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260134	NM_001166160.2(PPP1R9A):c.300G>A (p.Met100Ile)	PPP1R9A (M100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258579	NM_001166160.2(PPP1R9A):c.2743A>G (p.Asn915Asp)	PPP1R9A (N893D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250776	NM_001166160.2(PPP1R9A):c.3230A>C (p.Asn1077Thr)	PPP1R9A (N1077T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233364	NM_001166160.2(PPP1R9A):c.1793A>T (p.Glu598Val)	PPP1R9A, PPP1R9A-AS1 (E598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227776	NM_001166160.2(PPP1R9A):c.3194G>A (p.Arg1065Gln)	PPP1R9A (R1025Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2226635	NM_001166160.2(PPP1R9A):c.3224G>A (p.Arg1075Gln)	PPP1R9A (R1035Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224287	NM_001166160.2(PPP1R9A):c.3206A>G (p.Asp1069Gly)	PPP1R9A (D1029G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215825	NM_001166160.2(PPP1R9A):c.3565A>G (p.Arg1189Gly)	PPP1R9A (R1189G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205661	NM_001166160.2(PPP1R9A):c.1316A>G (p.Tyr439Cys)	PPP1R9A (Y439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1282072	NM_001166160.2(PPP1R9A):c.991A>G (p.Met331Val)	PPP1R9A (M331V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	CASD1, COL1A2 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 783494	NM_001166160.2(PPP1R9A):c.3012C>G (p.Leu1004=)	LOC126860112, PPP1R9A	Single nucleotide variant (synonymous variant +1 more)	PPP1R9A-related disorder +1 more	GBenign
Select item 781651	NM_001166160.2(PPP1R9A):c.3374T>C (p.Met1125Thr)	PPP1R9A (M1125T +2 more)	Single nucleotide variant (missense variant +1 more)	PPP1R9A-related disorder +1 more	GBenign/Likely benign

<< First< Prev

Page of 2