ClinVar for MedGen (Select 766857) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022782	NM_006282.5(STK4):c.156C>T (p.Thr52=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3022120	NM_006282.5(STK4):c.801G>A (p.Glu267=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3021528	NM_006282.5(STK4):c.54T>C (p.Asp18=)	STK4	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3008723	NM_006282.5(STK4):c.1005T>A (p.Gly335=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2993502	NM_006282.5(STK4):c.994C>T (p.Arg332Ter)	STK4 (R332*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2986387	NM_006282.5(STK4):c.507G>A (p.Gly169=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2975716	NM_006282.5(STK4):c.361-14T>A	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2972893	NM_006282.5(STK4):c.35+8G>A	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2961841	NM_006282.5(STK4):c.1026A>C (p.Arg342=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2961122	NM_006282.5(STK4):c.1200A>G (p.Glu400=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2961120	NM_006282.5(STK4):c.1102A>G (p.Met368Val)	STK4 (M368V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2919491	NM_006282.5(STK4):c.1148-4del	STK4	Deletion (intron variant)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 2916184	NM_006282.5(STK4):c.246-19A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2885326	NM_006282.5(STK4):c.526-13C>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2873769	NM_006282.5(STK4):c.1455_1456inv (p.Gln485_Asn486delinsHisTyr)	STK4	Inversion (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2872919	NM_006282.5(STK4):c.1306-18del	STK4	Deletion (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2872143	NM_006282.5(STK4):c.987G>T (p.Thr329=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2865467	NM_006282.5(STK4):c.525+16_525+19del	STK4	Deletion (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2858330	NM_006282.5(STK4):c.961-18G>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2847296	NM_006282.5(STK4):c.245+17T>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2846377	NM_006282.5(STK4):c.1203A>G (p.Gln401=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2835614	NM_006282.5(STK4):c.1368G>A (p.Glu456=)	STK4	Single nucleotide variant (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2821170	NM_006282.5(STK4):c.693+14C>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2815980	NM_006282.5(STK4):c.1162A>G (p.Met388Val)	STK4 (M388V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2804900	NM_006282.5(STK4):c.531C>T (p.Thr177=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2795399	NM_006282.5(STK4):c.961-18G>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2793615	NM_006282.5(STK4):c.1443G>A (p.Lys481=)	STK4	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2793343	NM_006282.5(STK4):c.1148-7T>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2788801	NM_006282.5(STK4):c.592G>C (p.Glu198Gln)	STK4 (E198Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2785891	NM_006282.5(STK4):c.327T>G (p.Ser109=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2775914	NM_006282.5(STK4):c.117-7T>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2770369	NM_006282.5(STK4):c.36-18A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2764796	NM_006282.5(STK4):c.158G>A (p.Gly53Asp)	STK4 (G53D)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2747507	NM_006282.5(STK4):c.153G>A (p.Glu51=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2727529	NM_006282.5(STK4):c.871C>T (p.Arg291Ter)	STK4 (R291*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2718599	NM_006282.5(STK4):c.986C>T (p.Thr329Met)	STK4 (T329M)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2710393	NM_006282.5(STK4):c.1306-6T>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2706873	NM_006282.5(STK4):c.1269A>G (p.Ser423=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2629147	NM_006282.5(STK4):c.484C>A (p.His162Asn)	STK4 (H162N)	Single nucleotide variant (missense variant)	STK4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2499603	NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)	STK4 (R463W)	Single nucleotide variant (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2425560	NC_000020.10:g.(?_43703639)_(43703817_?)dup	STK4	Duplication	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2202210	NM_006282.5(STK4):c.1374G>A (p.Glu458=)	STK4	Single nucleotide variant (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2199411	NM_006282.5(STK4):c.1435G>T (p.Ala479Ser)	STK4 (A479S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2193714	NM_006282.5(STK4):c.946G>T (p.Asp316Tyr)	STK4 (D316Y)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2192104	NM_006282.5(STK4):c.29C>T (p.Pro10Leu)	STK4 (P10L)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2191876	NM_006282.5(STK4):c.1209A>G (p.Glu403=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2189697	NM_006282.5(STK4):c.301G>A (p.Val101Ile)	STK4 (V101I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2187574	NM_006282.5(STK4):c.1170T>C (p.Pro390=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2167374	NM_006282.5(STK4):c.831+18A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2157280	NM_006282.5(STK4):c.159C>A (p.Gly53=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2148931	NM_006282.5(STK4):c.264T>C (p.Tyr88=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2145620	NM_006282.5(STK4):c.36-3C>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2136950	NM_006282.5(STK4):c.360+16A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2114107	NM_006282.5(STK4):c.260A>G (p.Lys87Arg)	STK4 (K87R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2090777	NM_006282.5(STK4):c.116+10A>G	STK4	Single nucleotide variant (intron variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2086171	NM_006282.5(STK4):c.356A>C (p.Lys119Thr)	STK4 (K119T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2083697	NM_006282.5(STK4):c.1305+9T>A	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2073387	NM_006282.5(STK4):c.246-15TC[5]	STK4	Microsatellite (intron variant)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 2067438	NM_006282.5(STK4):c.563C>T (p.Pro188Leu)	STK4 (P188L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2058421	NM_006282.5(STK4):c.1377T>A (p.Ile459=)	STK4	Single nucleotide variant (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2055641	NM_006282.5(STK4):c.955A>G (p.Asn319Asp)	STK4 (N319D)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2054409	NM_006282.5(STK4):c.929G>C (p.Arg310Pro)	STK4 (R310P)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2050900	NM_006282.5(STK4):c.961-2A>G	STK4	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to STK4 deficiency	GLikely pathogenic
Select item 2041840	NM_006282.5(STK4):c.524C>T (p.Thr175Ile)	STK4 (T175I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2036386	NM_006282.5(STK4):c.831+19T>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2036005	NM_006282.5(STK4):c.519A>G (p.Gln173=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2035059	NM_006282.5(STK4):c.361-5T>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2028886	NM_006282.5(STK4):c.246-4C>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2020904	NM_006282.5(STK4):c.36-1G>A	STK4	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to STK4 deficiency	GLikely pathogenic
Select item 2006952	NM_006282.5(STK4):c.1147+18T>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1994489	NM_006282.5(STK4):c.666C>T (p.Pro222=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1985465	NM_006282.5(STK4):c.1380A>G (p.Glu460=)	STK4	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1984216	NM_006282.5(STK4):c.1272T>C (p.Asp424=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1982961	NM_006282.5(STK4):c.1286A>G (p.Gln429Arg)	STK4 (Q429R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1981715	NM_006282.5(STK4):c.1092A>G (p.Gln364=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1978731	NM_006282.5(STK4):c.36-4A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1975512	NM_006282.5(STK4):c.946G>A (p.Asp316Asn)	STK4 (D316N)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1949707	NM_006282.5(STK4):c.302T>C (p.Val101Ala)	STK4 (V101A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1911839	NM_006282.5(STK4):c.246C>T (p.Ser82=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1907825	NM_006282.5(STK4):c.361-16C>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1897678	NM_006282.5(STK4):c.945C>T (p.Asp315=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1897056	NM_006282.5(STK4):c.1300G>A (p.Glu434Lys)	STK4 (E434K)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency +1 more	GUncertain significance
Select item 1721878	NM_006282.5(STK4):c.1104G>A (p.Met368Ile)	STK4 (M368I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1721868	NM_006282.5(STK4):c.1427C>T (p.Ala476Val)	STK4 (A476V)	Single nucleotide variant (3 prime UTR variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1717300	NM_006282.5(STK4):c.424T>C (p.Phe142Leu)	STK4 (F142L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1675856	NM_006282.5(STK4):c.619A>G (p.Ile207Val)	STK4 (I207V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1668941	NM_006282.5(STK4):c.276T>C (p.Tyr92=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1663656	NM_006282.5(STK4):c.120C>G (p.Ser40=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1650249	NM_006282.5(STK4):c.465T>A (p.Ile155=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1649002	NM_006282.5(STK4):c.1071C>T (p.His357=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency +1 more	GLikely benign
Select item 1618552	NM_006282.5(STK4):c.960+13C>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1610470	NM_006282.5(STK4):c.1083G>A (p.Leu361=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1607881	NM_006282.5(STK4):c.246-15TC[7]	STK4	Microsatellite (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1595759	NM_006282.5(STK4):c.1080G>A (p.Thr360=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1586980	NM_006282.5(STK4):c.837A>G (p.Pro279=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1581289	NM_006282.5(STK4):c.45A>G (p.Lys15=)	STK4	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1581133	NM_006282.5(STK4):c.1148-18A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1578444	NM_006282.5(STK4):c.693+11G>A	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1576714	NM_006282.5(STK4):c.961-17A>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign

<< First< Prev

Page of 3