C3150988[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1042182	NM_139318.5(KCNH5):c.998G>A (p.Arg333His)	KCNH5 (R333H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 112 +2 more	GConflicting classifications of pathogenicity
Select item 100784	NM_139318.5(KCNH5):c.980G>A (p.Arg327His)	KCNH5 (R327H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 112 +3 more	GPathogenic
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)	not provided +3 more	GUncertain significance
Select item 977440	NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln)	PNKP (E520Q)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +2 more	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 701635	NM_007254.4(PNKP):c.1554C>T (p.Phe518=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	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 854429	NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)	PNKP (Q517*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12 +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 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 138725	NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	PNKP (E508K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +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)	not provided +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)	Inborn genetic diseases +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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 538898	NM_007254.4(PNKP):c.1510del (p.Arg504fs)	PNKP (R504fs)	Deletion (frameshift variant)	not provided +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)	Microcephaly, seizures, and developmental delay +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)	not specified +3 more	GBenign/Likely benign
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 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)	not specified +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 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)	not provided +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 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 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 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 +1 more	GConflicting classifications of pathogenicity
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)	Developmental and epileptic encephalopathy, 12 +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
Select item 2821022	NM_007254.4(PNKP):c.1448+11G>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1124983	NM_007254.4(PNKP):c.1448+10G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2887834	NM_007254.4(PNKP):c.1448+5_1448+8dup	PNKP	Duplication (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 386864	NM_007254.4(PNKP):c.1448+7T>C	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1452109	NM_007254.4(PNKP):c.1448+2T>A	PNKP	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 937941	NM_007254.4(PNKP):c.1443C>G (p.Gly481=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 206376	NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser)	PNKP (G481S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 942530	NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter)	PNKP (Y480*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2038447	NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)	PNKP (M479T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1060226	NM_007254.4(PNKP):c.1435A>G (p.Met479Val)	PNKP (M479V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 138723	NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	PNKP (V478G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 206418	NM_007254.4(PNKP):c.1432G>A (p.Val478Ile)	PNKP (V478I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 565845	NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	PNKP (M477T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 206417	NM_007254.4(PNKP):c.1429A>G (p.Met477Val)	PNKP (M477V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2851753	NM_007254.4(PNKP):c.1428C>T (p.Asp476=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 650019	NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu)	PNKP (S475L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 951982	NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs)	PNKP (S475fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2741180	NM_007254.4(PNKP):c.1422G>C (p.Val474=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 892704	NM_007254.4(PNKP):c.1422G>A (p.Val474=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity

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