STK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065593, LOC130065594 +2523 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065903, LOC130065904 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC130066356, LOC130066357 +1025 more	Copy number gain	See cases	GPathogenic
Select item 2578909	NM_006282.5(STK4):c.-2C>G	LOC130065950, STK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1154090	NM_006282.5(STK4):c.35+8G>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1114493	NM_006282.5(STK4):c.35+8_35+9delinsTT	STK4	Indel (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2688246	NM_006282.5(STK4):c.35+624T>A	STK4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1334913	NM_006282.5(STK4):c.36-46C>G	STK4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3727411	NM_006282.5(STK4):c.36-19T>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 1166070	NM_006282.5(STK4):c.36-12C>G	STK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 1481032	NM_006282.5(STK4):c.38A>C (p.Gln13Pro)	STK4 (Q13P)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
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 652491	NM_006282.5(STK4):c.47A>G (p.Lys16Arg)	STK4 (K16R)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
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 765687	NM_006282.5(STK4):c.78A>G (p.Pro26=)	STK4	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3727861	NM_006282.5(STK4):c.92dup (p.Asp31fs)	STK4 (D31fs)	Duplication (frameshift variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 844161	NM_006282.5(STK4):c.107T>C (p.Leu36Pro)	STK4 (L36P)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2090777	NM_006282.5(STK4):c.116+10A>G	STK4	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1168042	NM_006282.5(STK4):c.116+20A>G	STK4	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 2688413	NM_006282.5(STK4):c.116+1122G>T	STK4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688087	NM_006282.5(STK4):c.117-3081C>T	STK4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
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 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 743576	NM_006282.5(STK4):c.129C>T (p.Ser43=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
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 1001952	NM_006282.5(STK4):c.155C>T (p.Thr52Ile)	STK4 (T52I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
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 3707758	NM_006282.5(STK4):c.157G>A (p.Gly53Ser)	STK4 (G53S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
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 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 3323347	NM_006282.5(STK4):c.218A>G (p.Glu73Gly)	STK4 (E73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1607881	NM_006282.5(STK4):c.246-15TC[7]	STK4	Microsatellite (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3706211	NM_006282.5(STK4):c.246-15TC[4]	STK4	Microsatellite (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 1170594	NM_006282.5(STK4):c.246-12C>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 540528	NM_006282.5(STK4):c.246-10C>T	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 3721910	NM_006282.5(STK4):c.246-4C>T	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 1911839	NM_006282.5(STK4):c.246C>T (p.Ser82=)	STK4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 3802528	NM_006282.5(STK4):c.286A>C (p.Thr96Pro)	STK4 (T96P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3450726	NM_006282.5(STK4):c.286A>G (p.Thr96Ala)	STK4 (T96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749314	NM_006282.5(STK4):c.288A>G (p.Thr96=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency +1 more	GLikely benign
Select item 655720	NM_006282.5(STK4):c.291C>A (p.Asp97Glu)	STK4 (D97E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 72778	NM_006282.5(STK4):c.300C>T (p.Ile100=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2498885	NM_006282.5(STK4):c.301G>C (p.Val101Leu)	STK4 (V101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3171424	NM_006282.5(STK4):c.305T>C (p.Met102Thr)	STK4 (M102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1381506	NM_006282.5(STK4):c.340A>G (p.Ile114Val)	STK4 (I114V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 3587269	NM_006282.5(STK4):c.343C>T (p.Arg115Ter)	STK4 (R115*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 37323	NM_006282.5(STK4):c.349C>T (p.Arg117Ter)	STK4 (R117*)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +2 more	GPathogenic
Select item 953160	NM_006282.5(STK4):c.350G>A (p.Arg117Gln)	STK4 (R117Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1091883	NM_006282.5(STK4):c.354T>C (p.Asn118=)	STK4	Single nucleotide variant (synonymous variant)	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 582438	NM_006282.5(STK4):c.359C>T (p.Thr120Met)	STK4 (T120M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 1079257	NM_006282.5(STK4):c.366A>G (p.Thr122=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1018275	NM_006282.5(STK4):c.370G>A (p.Asp124Asn)	STK4 (D124N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008149	NM_006282.5(STK4):c.370G>T (p.Asp124Tyr)	STK4 (D124Y)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1455329	NM_006282.5(STK4):c.373G>T (p.Glu125Ter)	STK4 (E125*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 540522	NM_006282.5(STK4):c.387A>G (p.Ile129Met)	STK4 (I129M)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1418456	NM_006282.5(STK4):c.394T>G (p.Ser132Ala)	STK4 (S132A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2429218	NM_006282.5(STK4):c.395C>A (p.Ser132Ter)	STK4 (S132*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1482952	NM_006282.5(STK4):c.397A>G (p.Thr133Ala)	STK4 (T133A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency +1 more	GUncertain significance
Select item 3802527	NM_006282.5(STK4):c.413A>C (p.Glu138Ala)	STK4 (E138A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1119879	NM_006282.5(STK4):c.420T>C (p.Leu140=)	STK4	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
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 1348630	NM_006282.5(STK4):c.427A>T (p.Met143Leu)	STK4 (M143L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 1075656	NM_006282.5(STK4):c.442C>T (p.Arg148Ter)	STK4 (R148*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to STK4 deficiency	GPathogenic
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 565530	NM_006282.5(STK4):c.473A>G (p.Asn158Ser)	STK4 (N158S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
Select item 2629147	NM_006282.5(STK4):c.484C>A (p.His162Asn)	STK4 (H162N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 963389	NM_006282.5(STK4):c.518A>T (p.Gln173Leu)	STK4 (Q173L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STK4 deficiency	GUncertain significance
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 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 2865467	NM_006282.5(STK4):c.525+16_525+19del	STK4	Deletion (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 1164826	NM_006282.5(STK4):c.525+14T>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 1557378	NM_006282.5(STK4):c.525+16A>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 2628218	NM_006282.5(STK4):c.526-73C>T	STK4	Single nucleotide variant (intron variant)	not specified	GBenign
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 729273	NM_006282.5(STK4):c.526-9C>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GBenign
Select item 1121181	NM_006282.5(STK4):c.526-7A>C	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
Select item 473299	NM_006282.5(STK4):c.526-7A>G	STK4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STK4 deficiency	GLikely benign
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

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