ClinVar for MedGen (Select 862670) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064214	NM_005356.5(LCK):c.1318C>T (p.Pro440Ser)	LCK (P440S +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 3064212	NM_005356.5(LCK):c.1393T>C (p.Cys465Arg)	LCK (C414R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
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 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 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 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 2989959	NM_005356.5(LCK):c.654A>T (p.Thr218=)	LCK	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2973455	NM_005356.5(LCK):c.1195+14T>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 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 2919268	NM_005356.5(LCK):c.1041+18G>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2916541	NM_005356.5(LCK):c.1065T>C (p.Ile355=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 2914892	NM_005356.5(LCK):c.696G>A (p.Pro232=)	LCK	Single nucleotide variant (synonymous variant +1 more)	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 2879667	NM_005356.5(LCK):c.1353G>A (p.Gln451=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2877035	NM_005356.5(LCK):c.1356C>A (p.Asn452Lys)	LCK (N452K +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2873733	NM_005356.5(LCK):c.1042-15G>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2858686	NM_005356.5(LCK):c.1126del (p.Thr375_Leu376insTer)	LCK	Deletion (nonsense)	Severe combined immunodeficiency due to LCK deficiency	GPathogenic
Select item 2817660	NM_005356.5(LCK):c.1041+17G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	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 2801653	NM_005356.5(LCK):c.1380G>A (p.Val460=)	LCK	Single nucleotide variant (synonymous 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 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 2758317	NM_005356.5(LCK):c.1140T>C (p.Ile380=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2751358	NM_005356.5(LCK):c.751C>T (p.Leu251=)	LCK	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 2718997	NM_005356.5(LCK):c.771G>C (p.Gly257=)	LCK	Single nucleotide variant (synonymous variant +1 more)	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)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 2444204	NM_005356.5(LCK):c.734T>A (p.Leu245Gln)	LCK (L245Q)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2413858	NM_005356.5(LCK):c.1242C>T (p.Tyr414=)	LCK	Single nucleotide variant (synonymous 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 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 2194196	NM_005356.5(LCK):c.1527_*6TTGAGAGGCC[1] (p.Pro509_Ter(510_?)(?))	LCK	Microsatellite (frameshift variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2194065	NM_005356.5(LCK):c.587G>C (p.Arg196Pro)	LCK (R196P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2192639	NM_005356.5(LCK):c.1240T>C (p.Tyr414His)	LCK (Y363H +1 more)	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 2187626	NM_005356.5(LCK):c.933C>A (p.Pro311=)	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 2176328	NM_005356.5(LCK):c.795C>T (p.Asn265=)	LCK	Single nucleotide variant (synonymous 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 2171575	NM_005356.5(LCK):c.1195+5G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2167125	NM_005356.5(LCK):c.1224G>A (p.Ala408=)	LCK	Single nucleotide variant (synonymous 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 2155344	NM_005356.5(LCK):c.753G>A (p.Leu251=)	LCK	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2153675	NM_005356.5(LCK):c.898C>T (p.Leu300=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2147159	NM_005356.5(LCK):c.1128G>A (p.Leu376=)	LCK	Single nucleotide variant (synonymous 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 2112827	NM_005356.5(LCK):c.1179G>A (p.Glu393=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2105280	NM_005356.5(LCK):c.1362G>A (p.Glu454=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2101982	NM_005356.5(LCK):c.964+13C>G	LCK	Single nucleotide variant (intron 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 2088770	NM_005356.5(LCK):c.1014C>G (p.Ile338Met)	LCK (I287M +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
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 2084419	NM_005356.5(LCK):c.655C>G (p.Arg219Gly)	LCK (R219G)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
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 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 2068453	NM_005356.5(LCK):c.1313G>A (p.Arg438His)	LCK (R387H +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2065156	NM_005356.5(LCK):c.964+11C>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2061475	NM_005356.5(LCK):c.1326A>C (p.Pro442=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 2060539	NM_005356.5(LCK):c.1344G>A (p.Glu448=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2057666	NM_005356.5(LCK):c.632-14C>T	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 2024860	NM_005356.5(LCK):c.1476T>C (p.Ser492=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 2000004	NM_005356.5(LCK):c.725G>A (p.Arg242Lys)	LCK (R242K)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1994652	NM_005356.5(LCK):c.797G>A (p.Gly266Glu)	LCK (G266E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
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 1986964	NM_005356.5(LCK):c.1327+12G>A	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1980913	NM_005356.5(LCK):c.1245G>C (p.Gly415=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 1976875	NM_005356.5(LCK):c.788A>T (p.Tyr263Phe)	LCK (Y212F +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 1972783	NM_005356.5(LCK):c.984C>T (p.Leu328=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1969501	NM_005356.5(LCK):c.853T>C (p.Phe285Leu)	LCK (F285L +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
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 1956956	NM_005356.5(LCK):c.1269G>A (p.Val423=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1956568	NM_005356.5(LCK):c.1196-11C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 1953180	NM_005356.5(LCK):c.656G>A (p.Arg219Gln)	LCK (R219Q)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to LCK deficiency +1 more	GUncertain significance
Select item 1949744	NM_005356.5(LCK):c.1072C>A (p.Arg358=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1940934	NM_005356.5(LCK):c.1196-8C>G	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 1934417	NM_005356.5(LCK):c.1356C>T (p.Asn452=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1933322	NM_005356.5(LCK):c.696G>C (p.Pro232=)	LCK	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1932139	NM_005356.5(LCK):c.885G>C (p.Leu295=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1930177	NM_005356.5(LCK):c.1042-18T>C	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
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 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 1899955	NM_005356.5(LCK):c.663C>T (p.Ser221=)	LCK	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1899850	NM_005356.5(LCK):c.1164C>T (p.Leu388=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1895608	NM_005356.5(LCK):c.1196-9C>T	LCK	Single nucleotide variant (intron 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 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 1717282	NM_005356.5(LCK):c.1510C>A (p.Gln504Lys)	LCK (Q453K +1 more)	Single nucleotide variant (missense 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 1650431	NM_005356.5(LCK):c.632-5C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1650241	NM_005356.5(LCK):c.1328-14C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1645793	NM_005356.5(LCK):c.1290G>A (p.Leu430=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign
Select item 1643113	NM_005356.5(LCK):c.612A>G (p.Glu204=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency	GLikely benign

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