11284[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1208797	NC_000019.10:g.49861091dup	PNKP	Duplication	not provided	GLikely benign
Select item 1203607	NC_000019.10:g.49861166T>C	PNKP	Single nucleotide variant	not provided	GLikely benign
Select item 894691	NM_007254.4(PNKP):c.*43G>A	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329889	NM_007254.4(PNKP):c.*23A>C	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329890	NM_007254.4(PNKP):c.*21A>C	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay	GBenign
Select item 389111	NM_007254.4(PNKP):c.*17C>T	PNKP	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 138727	NM_007254.4(PNKP):c.*15C>T	PNKP	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1190679	NM_007254.4(PNKP):c.*5C>G	PNKP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1061991	NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp)	PNKP	Single nucleotide variant (stop lost)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 487325	NM_007254.4(PNKP):c.1565G>A (p.Ter522=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 856315	NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser)	PNKP (G521S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2914245	NM_007254.4(PNKP):c.1560G>A (p.Glu520=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 285527	NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	PNKP (E520G)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +3 more	GUncertain significance
Select item 977440	NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln)	PNKP (E520Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 652822	NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys)	PNKP (E520K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1140370	NM_007254.4(PNKP):c.1557C>G (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 138726	NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 499564	NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys)	PNKP (S519C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701635	NM_007254.4(PNKP):c.1554C>T (p.Phe518=)	PNKP	Single nucleotide variant (synonymous variant)	PNKP-related condition +1 more	GLikely benign
Select item 2417797	NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)	PNKP (F518Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1432223	NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu)	PNKP (F518L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 700295	NM_007254.4(PNKP):c.1551G>A (p.Gln517=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1918056	NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)	PNKP (Q517L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 187768	NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs)	PNKP (Q517fs)	Insertion (frameshift variant)	Ataxia - oculomotor apraxia type 4	GPathogenic
Select item 854429	NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)	PNKP (Q517*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 801423	NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)	PNKP (Q517fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1034804	NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp)	PNKP (C516W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 697543	NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 206420	NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)	PNKP (Y515*)	Single nucleotide variant (nonsense)	PNKP-related condition +1 more	GLikely pathogenic
Select item 1452440	NM_007254.4(PNKP):c.1543dup (p.Tyr515fs)	PNKP (Y515fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 754021	NM_007254.4(PNKP):c.1539G>A (p.Arg513=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1498283	NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln)	PNKP (R513Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 992785	NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp)	PNKP (R513W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 1569525	NM_007254.4(PNKP):c.1536G>A (p.Gly512=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2127482	NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)	PNKP (G512A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2060236	NM_007254.4(PNKP):c.1534G>A (p.Gly512Arg)	PNKP (G512R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 998580	NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg)	PNKP (G512R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1381679	NM_007254.4(PNKP):c.1531C>T (p.Leu511=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1545031	NM_007254.4(PNKP):c.1527G>T (p.Pro509=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 206432	NM_007254.4(PNKP):c.1524G>C (p.Glu508Asp)	PNKP (E508D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138725	NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	PNKP (E508K)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 1374864	NM_007254.4(PNKP):c.1521G>A (p.Val507=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1482035	NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys)	PNKP (W506C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1312824	NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter)	PNKP (W506*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1026293	NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg)	PNKP (W506R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 383164	NM_007254.4(PNKP):c.1515A>G (p.Leu505=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GLikely benign
Select item 697783	NM_007254.4(PNKP):c.1513C>T (p.Leu505=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2752682	NM_007254.4(PNKP):c.1512G>T (p.Arg504=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1129387	NM_007254.4(PNKP):c.1512G>C (p.Arg504=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1053510	NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln)	PNKP (R504Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 750407	NM_007254.4(PNKP):c.1510C>A (p.Arg504=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 568194	NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)	PNKP (R504W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 538898	NM_007254.4(PNKP):c.1510del (p.Arg504fs)	PNKP (R504fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 206419	NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)	PNKP (R504G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1006437	NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu)	PNKP (P502L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1487502	NM_007254.4(PNKP):c.1503C>G (p.Ile501Met)	PNKP (I501M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2028325	NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)	PNKP (I501fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 762185	NM_007254.4(PNKP):c.1500G>A (p.Glu500=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1510591	NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly)	PNKP (E500G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2827485	NM_007254.4(PNKP):c.1497G>T (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 95481	NM_007254.4(PNKP):c.1497G>A (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	PNKP-related condition +4 more	GBenign/Likely benign
Select item 2316046	NM_007254.4(PNKP):c.1496T>C (p.Leu499Pro)	PNKP (L499P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 409613	NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln)	PNKP (L499Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 138724	NM_007254.4(PNKP):c.1495C>T (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1003658	NM_007254.4(PNKP):c.1494C>G (p.Ile498Met)	PNKP (I498M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 538904	NM_007254.4(PNKP):c.1494C>T (p.Ile498=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 538888	NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)	PNKP (I498L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 95480	NM_007254.4(PNKP):c.1491C>T (p.Ala497=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 432917	NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu)	PNKP (F495L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 2848997	NM_007254.4(PNKP):c.1482C>G (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 589839	NM_007254.4(PNKP):c.1482C>T (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 159790	NM_007254.4(PNKP):c.1482C>A (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2435098	NM_007254.4(PNKP):c.1481G>A (p.Gly494Asp)	PNKP (G494D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426511	NM_007254.4(PNKP):c.1481G>T (p.Gly494Val)	PNKP (G494V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959889	NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)	PNKP (G494S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 947196	NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys)	PNKP (G494C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1501901	NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys)	PNKP (E493K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1273876	NM_007254.4(PNKP):c.1471C>T (p.Leu491=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 1418202	NM_007254.4(PNKP):c.1469C>T (p.Thr490Met)	PNKP (T490M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 167516	NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala)	PNKP (T490A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843394	NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser)	PNKP (P489S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2781312	NM_007254.4(PNKP):c.1464C>T (p.Ala488=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1335939	NM_007254.4(PNKP):c.1462dup (p.Ala488fs)	PNKP (A488fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1950462	NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)	PNKP (E487K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 423477	NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser)	PNKP (R483S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104797	NM_007254.4(PNKP):c.1449-5G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1096384	NM_007254.4(PNKP):c.1449-5G>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2979734	NM_007254.4(PNKP):c.1449-8_1449-6del	PNKP	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2917143	NM_007254.4(PNKP):c.1449-9C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1158453	NM_007254.4(PNKP):c.1449-11_1449-10del	PNKP	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2814164	NM_007254.4(PNKP):c.1449-12C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2193777	NM_007254.4(PNKP):c.1449-14_1449-13delinsTT	PNKP	Indel (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1923255	NM_007254.4(PNKP):c.1449-13C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 206377	NM_007254.4(PNKP):c.1449-19C>A	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1612796	NM_007254.4(PNKP):c.1448+16G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2871469	NM_007254.4(PNKP):c.1448+14T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 378401	NM_007254.4(PNKP):c.1448+13A>G	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1609390	NM_007254.4(PNKP):c.1448+12G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign

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