ClinVar for Gene (Select 5528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369448	NM_006245.4(PPP2R5D):c.1589_1590del (p.Pro530fs)	PPP2R5D (P379fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369075	NM_006245.4(PPP2R5D):c.1505G>A (p.Arg502Lys)	PPP2R5D (R351K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368947	NM_006245.4(PPP2R5D):c.1549C>T (p.Pro517Ser)	PPP2R5D (P366S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368893	NM_006245.4(PPP2R5D):c.1084A>G (p.Ile362Val)	PPP2R5D (I211V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368033	NM_006245.4(PPP2R5D):c.1508A>T (p.Glu503Val)	PPP2R5D (E352V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367950	NM_006245.4(PPP2R5D):c.919A>G (p.Ile307Val)	PPP2R5D (I156V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367359	NM_006245.4(PPP2R5D):c.595G>T (p.Asp199Tyr)	PPP2R5D (D167Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365753	NM_006245.4(PPP2R5D):c.943C>G (p.Leu315Val)	PPP2R5D (L164V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364598	NM_006245.4(PPP2R5D):c.1442T>G (p.Phe481Cys)	PPP2R5D (F330C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364018	NM_006245.4(PPP2R5D):c.1265C>G (p.Ala422Gly)	PPP2R5D (A271G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358934	NM_006245.4(PPP2R5D):c.570_605del (p.Gly191_Thr202del)	PPP2R5D	Deletion (inframe_deletion)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 3348101	NM_006245.4(PPP2R5D):c.241G>A (p.Val81Ile)	PPP2R5D (V81I)	Single nucleotide variant (5 prime UTR variant +2 more)	PPP2R5D-related disorder	GUncertain significance
Select item 3345092	NM_006245.4(PPP2R5D):c.616G>C (p.Ala206Pro)	PPP2R5D (A100P +3 more)	Single nucleotide variant (missense variant)	PPP2R5D-related disorder	GUncertain significance
Select item 3340884	NM_006245.4(PPP2R5D):c.123G>C (p.Gln41His)	PPP2R5D (Q41H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3337493	NM_006245.4(PPP2R5D):c.598G>C (p.Glu200Gln)	PPP2R5D (E168Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254871	NM_006245.4(PPP2R5D):c.1481+1G>A	PPP2R5D	Single nucleotide variant (splice donor variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3253374	NM_006245.4(PPP2R5D):c.1445A>G (p.Asp482Gly)	PPP2R5D (D331G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253202	NM_006245.4(PPP2R5D):c.400G>C (p.Asp134His)	PPP2R5D (D102H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3253122	NM_006245.4(PPP2R5D):c.858G>T (p.Arg286Ser)	PPP2R5D (R135S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251133	NM_006245.4(PPP2R5D):c.687C>T (p.Asn229=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246196	NC_000006.11:g.(?_42932073)_(42952462_?)dup	PEX6, PPP2R5D	Duplication	not provided	GUncertain significance
Select item 3237200	NM_006245.4(PPP2R5D):c.1319C>T (p.Ala440Val)	PPP2R5D (A289V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237199	NM_006245.4(PPP2R5D):c.608T>C (p.Leu203Pro)	PPP2R5D (L171P +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 3237198	NM_006245.4(PPP2R5D):c.1607C>G (p.Thr536Arg)	PPP2R5D (T385R +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237197	NM_006245.4(PPP2R5D):c.256C>T (p.Arg86Trp)	PPP2R5D (R86W)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237196	NM_006245.4(PPP2R5D):c.1387del (p.His463fs)	PPP2R5D (H312fs +3 more)	Deletion (frameshift variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3236570	NM_006245.4(PPP2R5D):c.391T>G (p.Phe131Val)	PPP2R5D (F131V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 3235859	NM_006245.4(PPP2R5D):c.1315G>A (p.Ala439Thr)	PPP2R5D (A288T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233898	NM_006245.4(PPP2R5D):c.1428G>A (p.Met476Ile)	PPP2R5D (M325I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217805	NM_006245.4(PPP2R5D):c.496G>A (p.Ala166Thr)	PPP2R5D (A134T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026708	NM_006245.4(PPP2R5D):c.584A>C (p.Asp195Ala)	PPP2R5D (D163A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026586	NM_006245.4(PPP2R5D):c.36C>A (p.Pro12=)	PPP2R5D	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3007782	NM_006245.4(PPP2R5D):c.1022C>G (p.Pro341Arg)	PPP2R5D (P235R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007357	NM_006245.4(PPP2R5D):c.1235C>G (p.Ser412Cys)	PPP2R5D (S306C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006652	NM_006245.4(PPP2R5D):c.1728C>G (p.Pro576=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006585	NM_006245.4(PPP2R5D):c.603C>G (p.Pro201=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003984	NM_006245.4(PPP2R5D):c.917+16G>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3001938	NM_006245.4(PPP2R5D):c.38A>G (p.Lys13Arg)	PPP2R5D (K13R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3001426	NM_006245.4(PPP2R5D):c.918-17T>C	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000994	NM_006245.4(PPP2R5D):c.726+10C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000642	NM_006245.4(PPP2R5D):c.546G>A (p.Thr182=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996730	NM_006245.4(PPP2R5D):c.1497G>A (p.Met499Ile)	PPP2R5D (M393I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993518	NM_006245.4(PPP2R5D):c.1671+3G>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2987961	NM_006245.4(PPP2R5D):c.1020C>G (p.His340Gln)	PPP2R5D (H189Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986458	NM_006245.4(PPP2R5D):c.1671+12A>G	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984936	NM_006245.4(PPP2R5D):c.523-12C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981228	NM_006245.4(PPP2R5D):c.1774G>C (p.Glu592Gln)	MEA1, PPP2R5D (E486Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981096	NM_006245.4(PPP2R5D):c.1554+20G>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977065	NM_006245.4(PPP2R5D):c.218A>G (p.Lys73Arg)	PPP2R5D (K73R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2976337	NM_006245.4(PPP2R5D):c.1698A>G (p.Lys566=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2974782	NM_006245.4(PPP2R5D):c.1026+13C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970114	NM_006245.4(PPP2R5D):c.1608A>G (p.Thr536=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967609	NM_006245.4(PPP2R5D):c.323-4A>C	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966748	NM_006245.4(PPP2R5D):c.1027-12A>G	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963543	NM_006245.4(PPP2R5D):c.292C>T (p.Arg98Trp)	PPP2R5D (R98W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2961636	NM_006245.4(PPP2R5D):c.322+14G>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961379	NM_006245.4(PPP2R5D):c.917+14T>C	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956602	NM_006245.4(PPP2R5D):c.1081-15C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915914	NM_006245.4(PPP2R5D):c.1779G>C (p.Glu593Asp)	MEA1, PPP2R5D (E442D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2913739	NM_006245.4(PPP2R5D):c.395T>C (p.Val132Ala)	PPP2R5D (V26A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2905706	NM_006245.4(PPP2R5D):c.540C>G (p.Phe180Leu)	PPP2R5D (F180L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903255	NM_006245.4(PPP2R5D):c.1167C>T (p.Asp389=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885371	NM_006245.4(PPP2R5D):c.1644G>A (p.Lys548=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881548	NM_006245.4(PPP2R5D):c.633+4C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879533	NM_006245.4(PPP2R5D):c.858-11dup	PPP2R5D	Duplication (intron variant)	not provided	GBenign
Select item 2876536	NM_006245.4(PPP2R5D):c.100G>A (p.Glu34Lys)	PPP2R5D (E34K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2876266	NM_006245.4(PPP2R5D):c.129G>A (p.Gln43=)	PPP2R5D	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2874166	NM_006245.4(PPP2R5D):c.477C>T (p.Ser159=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871746	NM_006245.4(PPP2R5D):c.523-19A>G	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867121	NM_006245.4(PPP2R5D):c.1671+18G>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867089	NM_006245.4(PPP2R5D):c.28-16C>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866455	NM_006245.4(PPP2R5D):c.1027-9C>T	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858005	NM_006245.4(PPP2R5D):c.1708C>T (p.Arg570Trp)	MEA1, PPP2R5D (R419W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2854078	NM_006245.4(PPP2R5D):c.1141T>C (p.Leu381=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851058	NM_006245.4(PPP2R5D):c.272G>C (p.Arg91Pro)	PPP2R5D (R91P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2850912	NM_006245.4(PPP2R5D):c.1321C>T (p.Arg441Ter)	PPP2R5D (R335* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2850736	NM_006245.4(PPP2R5D):c.818G>A (p.Arg273Gln)	PPP2R5D (R122Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850717	NM_006245.4(PPP2R5D):c.1006C>G (p.Leu336Val)	PPP2R5D (L185V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850345	NM_006245.4(PPP2R5D):c.1719G>T (p.Ser573=)	MEA1, PPP2R5D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2846687	NM_006245.4(PPP2R5D):c.833G>T (p.Arg278Met)	PPP2R5D (R246M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841955	NM_006245.4(PPP2R5D):c.1741_1742dup (p.Ile582fs)	MEA1, PPP2R5D (I476fs +3 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2837616	NM_006245.4(PPP2R5D):c.1026+16C>G	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836107	NM_006245.4(PPP2R5D):c.1669del (p.Gln557fs)	PPP2R5D (Q557fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2829605	NM_006245.4(PPP2R5D):c.266C>G (p.Ser89Cys)	PPP2R5D (S89C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2828836	NM_006245.4(PPP2R5D):c.1344T>G (p.Pro448=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825042	NM_006245.4(PPP2R5D):c.200C>T (p.Thr67Met)	PPP2R5D (T67M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2822677	NM_006245.4(PPP2R5D):c.1446T>C (p.Asp482=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817993	NM_006245.4(PPP2R5D):c.998T>G (p.Val333Gly)	PPP2R5D (V227G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817992	NM_006245.4(PPP2R5D):c.975T>G (p.Arg325=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804340	NM_006245.4(PPP2R5D):c.1410G>C (p.Leu470=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802414	NM_006245.4(PPP2R5D):c.126C>T (p.Pro42=)	PPP2R5D	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2798409	NM_006245.4(PPP2R5D):c.1098C>G (p.Leu366=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797235	NM_006245.4(PPP2R5D):c.1567C>T (p.Arg523Ter)	PPP2R5D (R372* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2794596	NM_006245.4(PPP2R5D):c.1290C>T (p.Tyr430=)	PPP2R5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784049	NM_006245.4(PPP2R5D):c.1080+15G>A	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782424	NM_006245.4(PPP2R5D):c.231G>C (p.Gly77=)	PPP2R5D	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2780348	NM_006245.4(PPP2R5D):c.918-18A>G	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2778454	NM_006245.4(PPP2R5D):c.917+15G>C	PPP2R5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776851	NM_006245.4(PPP2R5D):c.429G>A (p.Glu143=)	PPP2R5D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2776655	NM_006245.4(PPP2R5D):c.326C>T (p.Ser109Leu)	PPP2R5D (S109L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance

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