LCK[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 259

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2744098	NM_005356.5(LCK):c.15C>T (p.Cys5=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1516490	NM_005356.5(LCK):c.15C>G (p.Cys5Trp)	LCK (C5W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1447755	NM_005356.5(LCK):c.30A>T (p.Glu10Asp)	LCK (E10D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1370305	NM_005356.5(LCK):c.49A>G (p.Ile17Val)	LCK (I17V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 797808	NM_005356.5(LCK):c.84C>A (p.Val28=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 541837	NM_005356.5(LCK):c.84C>T (p.Val28=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 3001750	NM_005356.5(LCK):c.88C>T (p.Leu30=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 649229	NM_005356.5(LCK):c.90G>A (p.Leu30=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1657747	NM_005356.5(LCK):c.99G>A (p.Lys33=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1720609	NM_005356.5(LCK):c.100G>C (p.Gly34Arg)	LCK (G34R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1039527	NM_005356.5(LCK):c.104C>T (p.Thr35Met)	LCK (T35M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 3000712	NM_005356.5(LCK):c.105+10G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2196291	NM_005356.5(LCK):c.105+11A>G	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2800923	NM_005356.5(LCK):c.105+19G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1560305	NM_005356.5(LCK):c.106-14C>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2041799	NM_005356.5(LCK):c.115C>T (p.Arg39Ter)	LCK (R39*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 1495380	NM_005356.5(LCK):c.119A>G (p.Asn40Ser)	LCK (N40S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 474985	NM_005356.5(LCK):c.134G>A (p.Arg45Gln)	LCK (R45Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 717279	NM_005356.5(LCK):c.141A>G (p.Pro47=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2184865	NM_005356.5(LCK):c.142C>G (p.Leu48Val)	LCK (L48V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1161052	NM_005356.5(LCK):c.153C>T (p.Tyr51=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1717675	NM_005356.5(LCK):c.154G>C (p.Glu52Gln)	LCK (E52Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 840790	NM_005356.5(LCK):c.160T>G (p.Ser54Ala)	LCK (S54A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 541836	NM_005356.5(LCK):c.161C>G (p.Ser54Cys)	LCK (S54C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GBenign
Select item 474986	NM_005356.5(LCK):c.171G>A (p.Pro57=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GBenign
Select item 1570499	NM_005356.5(LCK):c.173C>T (p.Ala58Val)	LCK (A58V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2172946	NM_005356.5(LCK):c.187G>A (p.Asp63Asn)	LCK (D63N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2916196	NM_005356.5(LCK):c.188-17G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1957897	NM_005356.5(LCK):c.188-8del	LCK	Deletion (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 3064211	NM_005356.5(LCK):c.188-2A>G	LCK	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 2965436	NM_005356.5(LCK):c.192C>T (p.Asn64=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 943695	NM_005356.5(LCK):c.214T>C (p.Tyr72His)	LCK (Y72H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1589721	NM_005356.5(LCK):c.222C>T (p.Pro74=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2098881	NM_005356.5(LCK):c.238C>G (p.Leu80Val)	LCK (L80V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1979962	NM_005356.5(LCK):c.244T>C (p.Phe82Leu)	LCK (F82L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 657224	NM_005356.5(LCK):c.252G>T (p.Lys84Asn)	LCK (K84N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1434718	NM_005356.5(LCK):c.253G>C (p.Gly85Arg)	LCK (G85R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2709670	NM_005356.5(LCK):c.255G>C (p.Gly85=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2085127	NM_005356.5(LCK):c.265C>G (p.Arg89Gly)	LCK (R89G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 845184	NM_005356.5(LCK):c.270C>G (p.Ile90Met)	LCK (I90M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1804705	NM_005356.5(LCK):c.277C>T (p.Gln93Ter)	LCK (Q93*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1591578	NM_005356.5(LCK):c.279-16C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2895395	NM_005356.5(LCK):c.279-8T>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 844605	NM_005356.5(LCK):c.279-4G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 785762	NM_005356.5(LCK):c.281G>A (p.Ser94Asn)	LCK (S94N)	Single nucleotide variant (missense variant)	LCK-related disorder +1 more	GLikely benign
Select item 1445844	NM_005356.5(LCK):c.283G>C (p.Gly95Arg)	LCK (G95R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2296180	NM_005356.5(LCK):c.284G>A (p.Gly95Asp)	LCK (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334298	NM_005356.5(LCK):c.294G>T (p.Trp98Cys)	LCK (W98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1530093	NM_005356.5(LCK):c.297G>A (p.Lys99=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 3024027	NM_005356.5(LCK):c.306C>T (p.Ser102=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1387080	NM_005356.5(LCK):c.318C>T (p.Gly106=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1405226	NM_005356.5(LCK):c.326G>T (p.Gly109Val)	LCK (G109V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1143893	NM_005356.5(LCK):c.333C>T (p.Ile111=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1021516	NM_005356.5(LCK):c.343T>C (p.Phe115Leu)	LCK (F115L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1542014	NM_005356.5(LCK):c.348G>T (p.Val116=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1079001	NM_005356.5(LCK):c.351C>T (p.Ala117=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 935670	NM_005356.5(LCK):c.355G>T (p.Ala119Ser)	LCK (A119S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2190696	NM_005356.5(LCK):c.356C>A (p.Ala119Glu)	LCK (A119E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1553746	NM_005356.5(LCK):c.357G>C (p.Ala119=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1119380	NM_005356.5(LCK):c.360C>T (p.Asn120=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2070845	NM_005356.5(LCK):c.376C>A (p.Pro126Thr)	LCK (P126T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1914515	NM_005356.5(LCK):c.377+13C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1610566	NM_005356.5(LCK):c.377+18G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2135023	NM_005356.5(LCK):c.377+20G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1565441	NM_005356.5(LCK):c.377+20G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1613037	NM_005356.5(LCK):c.378-18C>G	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2956958	NM_005356.5(LCK):c.378-17G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2793560	NM_005356.5(LCK):c.378-17G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2201569	NM_005356.5(LCK):c.378-12C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1166152	NM_005356.5(LCK):c.378-11G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GBenign
Select item 793112	NM_005356.5(LCK):c.378-10C>T	LCK	Single nucleotide variant (intron variant)	LCK-related disorder +1 more	GLikely benign
Select item 2804288	NM_005356.5(LCK):c.378-7T>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1940383	NM_005356.5(LCK):c.391A>G (p.Asn131Asp)	LCK (N131D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1953319	NM_005356.5(LCK):c.395T>G (p.Leu132Arg)	LCK (L132R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1590897	NM_005356.5(LCK):c.408C>T (p.Asp136=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1038789	NM_005356.5(LCK):c.415del (p.Arg139fs)	LCK (R139fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 1084155	NM_005356.5(LCK):c.423C>G (p.Leu141=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1025318	NM_005356.5(LCK):c.437A>G (p.Asn146Ser)	LCK (N146S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1419132	NM_005356.5(LCK):c.440C>G (p.Thr147Ser)	LCK (T147S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1428849	NM_005356.5(LCK):c.444C>A (p.His148Gln)	LCK (H148Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 757286	NM_005356.5(LCK):c.474C>T (p.Ser158=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1411689	NM_005356.5(LCK):c.477del (p.Ala160fs)	LCK (A160fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 2068900	NM_005356.5(LCK):c.481+2T>G	LCK	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely pathogenic
Select item 1082731	NM_005356.5(LCK):c.481+7G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1577475	NM_005356.5(LCK):c.481+11G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2163521	NM_005356.5(LCK):c.481+14G>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1900373	NM_005356.5(LCK):c.481+20G>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1086673	NM_005356.5(LCK):c.482-7C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 755608	NM_005356.5(LCK):c.482-6A>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2712338	NM_005356.5(LCK):c.486G>A (p.Ser162=)	LCK	Single nucleotide variant (synonymous variant)	LCK-related disorder +1 more	GLikely benign
Select item 1495680	NM_005356.5(LCK):c.504G>A (p.Arg168=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1589292	NM_005356.5(LCK):c.510C>T (p.Phe170=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1993224	NM_005356.5(LCK):c.518A>G (p.Asn173Ser)	LCK (N173S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 841635	NM_005356.5(LCK):c.523G>A (p.Gly175Arg)	LCK (G175R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance

<< First< Prev

Page of 3