PPIP5K2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 149693	GRCh38/hg38 5q21.1-21.2(chr5:102812129-104230720)x3	GIN1, LINC02115 +15 more	Copy number gain	See cases	GLikely benign
Select item 1273990	NM_001276277.3(PPIP5K2):c.-284-87G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2330701	NM_001276277.3(PPIP5K2):c.214T>C (p.Tyr72His)	PPIP5K2 (Y72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558383	NM_001276277.3(PPIP5K2):c.316C>G (p.Pro106Ala)	PPIP5K2 (P106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038316	NM_001276277.3(PPIP5K2):c.372C>T (p.Asp124=)	PPIP5K2	Single nucleotide variant (synonymous variant)	PPIP5K2-related disorder	GBenign
Select item 1261411	NM_001276277.3(PPIP5K2):c.401+34A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217246	NM_001276277.3(PPIP5K2):c.481C>G (p.Pro161Ala)	PPIP5K2 (P161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217247	NM_001276277.3(PPIP5K2):c.485A>C (p.Lys162Thr)	PPIP5K2 (K162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246769	NM_001276277.3(PPIP5K2):c.643-104T>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248014	NM_001276277.3(PPIP5K2):c.643-35G>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699093	NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter)	PPIP5K2 (R229*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 100	GUncertain significance
Select item 3217248	NM_001276277.3(PPIP5K2):c.845A>T (p.Tyr282Phe)	PPIP5K2 (Y282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316497	NM_001276277.3(PPIP5K2):c.899C>G (p.Ala300Gly)	PPIP5K2 (A300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267245	NM_001276277.3(PPIP5K2):c.907-234G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217249	NM_001276277.3(PPIP5K2):c.941A>G (p.Asn314Ser)	PPIP5K2 (N314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217250	NM_001276277.3(PPIP5K2):c.965T>G (p.Val322Gly)	PPIP5K2 (V322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038048	NM_001276277.3(PPIP5K2):c.1028+10T>G	PPIP5K2	Single nucleotide variant (intron variant)	PPIP5K2-related disorder	GBenign
Select item 1259606	NM_001276277.3(PPIP5K2):c.1029-169G>A	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280414	NM_001276277.3(PPIP5K2):c.1029-163C>T	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266392	NM_001276277.3(PPIP5K2):c.1130+118T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283907	NM_001276277.3(PPIP5K2):c.1131-41T>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2330514	NM_001276277.3(PPIP5K2):c.1213C>G (p.Gln405Glu)	PPIP5K2 (Q405E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655626	NM_001276277.3(PPIP5K2):c.1255T>G (p.Ser419Ala)	PPIP5K2 (S419A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265614	NM_001276277.3(PPIP5K2):c.1294-17A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309226	NM_001276277.3(PPIP5K2):c.1303G>A (p.Asp435Asn)	PPIP5K2 (D435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237003	NM_001276277.3(PPIP5K2):c.1404-111A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2339731	NM_001276277.3(PPIP5K2):c.1534G>A (p.Gly512Arg)	PPIP5K2 (G512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655627	NM_001276277.3(PPIP5K2):c.1656A>G (p.Leu552=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1250418	NM_001276277.3(PPIP5K2):c.1738-99A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483350	NM_001276277.3(PPIP5K2):c.1841G>T (p.Ser614Ile)	PPIP5K2 (S613I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268816	NM_001276277.3(PPIP5K2):c.1921-49G>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2252924	NM_001276277.3(PPIP5K2):c.2039G>A (p.Arg680Gln)	PPIP5K2 (R679Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655628	NM_001276277.3(PPIP5K2):c.2055A>G (p.Lys685=)	PPIP5K2	Single nucleotide variant (synonymous variant)	PPIP5K2-related disorder +1 more	GBenign/Likely benign
Select item 1222268	NM_001276277.3(PPIP5K2):c.2062+40T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 219318	NM_001276277.3(PPIP5K2):c.2063-1_2065del	PPIP5K2	Deletion (splice acceptor variant)	Malignant tumor of prostate	GUncertain significance
Select item 2277138	NM_001276277.3(PPIP5K2):c.2114C>G (p.Ser705Cys)	PPIP5K2 (S704C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039680	NM_001276277.3(PPIP5K2):c.2175C>T (p.Asp725=)	PPIP5K2	Single nucleotide variant (synonymous variant)	PPIP5K2-related disorder	GBenign
Select item 145935	GRCh38/hg38 5q21.1(chr5:103168211-103253336)x3	LOC129994304, PPIP5K2	Copy number gain	See cases	GLikely benign
Select item 1232839	NM_001276277.3(PPIP5K2):c.2287-210G>T	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2486206	NM_001276277.3(PPIP5K2):c.2455A>G (p.Thr819Ala)	PPIP5K2 (T818A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 627521	NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)	PPIP5K2 (R837H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217242	NM_001276277.3(PPIP5K2):c.2513A>G (p.Tyr838Cys)	PPIP5K2 (Y837C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033760	NM_001276277.3(PPIP5K2):c.2530-809G>A	PPIP5K2	Single nucleotide variant (intron variant)	PPIP5K2-related disorder	GBenign
Select item 1260305	NM_001276277.3(PPIP5K2):c.2637+33A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250056	NM_001276277.3(PPIP5K2):c.2754+102T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461930	NM_001276277.3(PPIP5K2):c.2836A>T (p.Ile946Leu)	PPIP5K2 (I961L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243426	NM_001276277.3(PPIP5K2):c.2923-140A>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309223	NM_001276277.3(PPIP5K2):c.2956G>T (p.Gly986Cys)	PPIP5K2 (G985C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309224	NM_001276277.3(PPIP5K2):c.2960C>T (p.Thr987Ile)	PPIP5K2 (T1002I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294950	NM_001276277.3(PPIP5K2):c.3014G>A (p.Arg1005Lys)	PPIP5K2 (R1020K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1279099	NM_001276277.3(PPIP5K2):c.3124A>C (p.Arg1042=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295523	NM_001276277.3(PPIP5K2):c.3137C>T (p.Thr1046Ile)	PPIP5K2 (T1046I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217243	NM_001276277.3(PPIP5K2):c.3160C>A (p.Pro1054Thr)	PPIP5K2 (P1011T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399655	NM_001276277.3(PPIP5K2):c.3163A>G (p.Thr1055Ala)	PPIP5K2 (T1055A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236577	NM_001276277.3(PPIP5K2):c.3170-125T>C	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2342353	NM_001276277.3(PPIP5K2):c.3247C>T (p.Arg1083Cys)	PPIP5K2 (R1082C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309222	NM_001276277.3(PPIP5K2):c.3475C>T (p.Arg1159Trp)	PPIP5K2 (R1039W +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309221	NM_001276277.3(PPIP5K2):c.3476G>A (p.Arg1159Gln)	PPIP5K2 (R1098Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055970	NM_001276277.3(PPIP5K2):c.3482C>T (p.Thr1161Ile)	PPIP5K2 (T1041I +10 more)	Single nucleotide variant (missense variant)	PPIP5K2-related disorder	GBenign
Select item 1243920	NM_001276277.3(PPIP5K2):c.3483C>T (p.Thr1161=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048649	NM_001276277.3(PPIP5K2):c.3484G>A (p.Ala1162Thr)	PPIP5K2 (A1042T +10 more)	Single nucleotide variant (missense variant)	PPIP5K2-related disorder	GLikely benign
Select item 3309225	NM_001276277.3(PPIP5K2):c.3489A>C (p.Glu1163Asp)	PPIP5K2 (E1043D +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263057	NM_001276277.3(PPIP5K2):c.3494C>T (p.Ser1165Phe)	PPIP5K2 (S1045F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221331	NM_001276277.3(PPIP5K2):c.3502G>A (p.Ala1168Thr)	PPIP5K2 (A1106T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220010	NM_001276277.3(PPIP5K2):c.3548C>T (p.Thr1183Met)	PPIP5K2 (T1104M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351780	NM_001276277.3(PPIP5K2):c.3556C>T (p.Pro1186Ser)	PPIP5K2 (P1124S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792006	NM_001276277.3(PPIP5K2):c.3561A>G (p.Ala1187=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523991	NM_001276277.3(PPIP5K2):c.3578C>T (p.Pro1193Leu)	PPIP5K2 (P1073L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037969	NM_001276277.3(PPIP5K2):c.3616C>A (p.Pro1206Thr)	PPIP5K2 (P1086T +10 more)	Single nucleotide variant (missense variant)	PPIP5K2-related disorder	GBenign
Select item 1243734	NM_001276277.3(PPIP5K2):c.3620-23T>G	PPIP5K2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2615143	NM_001276277.3(PPIP5K2):c.3620C>T (p.Ala1207Val)	PPIP5K2 (A1087V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044314	NM_001276277.3(PPIP5K2):c.3644T>A (p.Val1215Asp)	PPIP5K2 (V1095D +10 more)	Single nucleotide variant (missense variant)	PPIP5K2-related disorder	GBenign
Select item 734806	NM_001276277.3(PPIP5K2):c.3645T>A (p.Val1215=)	PPIP5K2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1174257	NM_001276277.3(PPIP5K2):c.3682A>G (p.Ser1228Gly)	PPIP5K2 (S1108G +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1297810	NM_001276277.3(PPIP5K2):c.3695C>T (p.Thr1232Met)	PPIP5K2 (T1112M +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217245	NM_001276277.3(PPIP5K2):c.3706A>G (p.Lys1236Glu)	PPIP5K2 (K1157E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242953	NM_001276277.3(PPIP5K2):c.*22T>C	PPIP5K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1241085	NM_001276277.3(PPIP5K2):c.*44A>G	PPIP5K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980171	GRCh37/hg19 5q21.1(chr5:102034608-102540865)x3	GIN1, PAM +1 more	Copy number gain	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814718	GRCh37/hg19 5q21.1(chr5:101620402-102584810)x3	SLCO4C1, SLCO6A1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814717	GRCh37/hg19 5q21.1-21.2(chr5:101152187-103638623)x3	SLCO4C1, NUDT12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688694	GRCh37/hg19 5q21.1-21.2(chr5:102422529-104039584)x3	GIN1, MACIR +2 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 687993	GRCh37/hg19 5q21.1(chr5:102493450-102616861)x3	MACIR, PPIP5K2	Copy number gain	not provided	GUncertain significance
Select item 687251	GRCh37/hg19 5q21.1(chr5:102493450-102607061)x3	MACIR, PPIP5K2	Copy number gain	not provided	GUncertain significance
Select item 687249	GRCh37/hg19 5q21.1(chr5:102493450-102607061)x3	MACIR, PPIP5K2	Copy number gain	not provided	GUncertain significance

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