3718[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 369259	NC_000019.10:g.17824778_17824779del	JAK3	Deletion	Severe combined immunodeficiency disease	GBenign
Select item 369260	NC_000019.10:g.17824778_17824779insCA	JAK3	Insertion	Severe combined immunodeficiency disease	GBenign
Select item 328461	NM_000215.4(JAK3):c.*1931del	JAK3	Deletion (3 prime UTR variant)	Severe combined immunodeficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 328462	NM_000215.4(JAK3):c.*1926A>G	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888877	NM_000215.4(JAK3):c.*1835G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 888878	NM_000215.4(JAK3):c.*1833G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328463	NM_000215.4(JAK3):c.*1787C>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328464	NM_000215.4(JAK3):c.*1778A>G	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890572	NM_000215.4(JAK3):c.*1761T>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 328465	NM_000215.4(JAK3):c.*1752A>G	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890573	NM_000215.4(JAK3):c.*1661T>G	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328466	NM_000215.4(JAK3):c.*1548C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 328467	NM_000215.4(JAK3):c.*1531T>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328468	NM_000215.4(JAK3):c.*1523C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890574	NM_000215.4(JAK3):c.*1522C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890575	NM_000215.4(JAK3):c.*1509G>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328469	NM_000215.4(JAK3):c.*1422G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign
Select item 891135	NM_000215.4(JAK3):c.*1398G>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328470	NM_000215.4(JAK3):c.*1353dup	JAK3	Duplication (3 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 891136	NM_000215.4(JAK3):c.*1319G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328471	NM_000215.4(JAK3):c.*1293C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328472	NM_000215.4(JAK3):c.*1287A>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 891137	NM_000215.4(JAK3):c.*1264G>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328473	NM_000215.4(JAK3):c.*1218C>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328474	NM_000215.4(JAK3):c.*1197G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 328475	NM_000215.4(JAK3):c.*1094G>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328476	NM_000215.4(JAK3):c.*1038A>G	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign
Select item 328477	NM_000215.4(JAK3):c.*1014C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328478	NM_000215.4(JAK3):c.*985C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328479	NM_000215.4(JAK3):c.*974G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 892335	NM_000215.4(JAK3):c.*943G>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328480	NM_000215.4(JAK3):c.*937G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 892336	NM_000215.4(JAK3):c.*899A>G	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328481	NM_000215.4(JAK3):c.*847C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328482	NM_000215.4(JAK3):c.841_842dup	JAK3	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 888940	NM_000215.4(JAK3):c.*771C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328483	NM_000215.4(JAK3):c.*654A>T	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328484	NM_000215.4(JAK3):c.*653T>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 888941	NM_000215.4(JAK3):c.*607G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328485	NM_000215.4(JAK3):c.*593C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 888942	NM_000215.4(JAK3):c.*507A>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328486	NM_000215.4(JAK3):c.*503G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328487	NM_000215.4(JAK3):c.*501C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328488	NM_000215.4(JAK3):c.*448C>A	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890635	NM_000215.4(JAK3):c.*422C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890636	NM_000215.4(JAK3):c.*404G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890637	NM_000215.4(JAK3):c.*403C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 890638	NM_000215.4(JAK3):c.*371C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328489	NM_000215.4(JAK3):c.*340dup	JAK3	Duplication (3 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 890639	NM_000215.4(JAK3):c.*306G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328490	NM_000215.4(JAK3):c.*299C>T	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 891188	NM_000215.4(JAK3):c.*298C>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 328491	NM_000215.4(JAK3):c.*271G>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328492	NM_000215.4(JAK3):c.*252A>T	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328493	NM_000215.4(JAK3):c.*222CT[1]	JAK3	Microsatellite (3 prime UTR variant)	Severe combined immunodeficiency disease +1 more	GBenign
Select item 891189	NM_000215.4(JAK3):c.*204G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328494	NM_000215.4(JAK3):c.*138G>C	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891190	NM_000215.4(JAK3):c.*137G>T	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 328495	NM_000215.4(JAK3):c.*123T>C	JAK3	Single nucleotide variant (3 prime UTR variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +2 more	GBenign
Select item 892390	NM_000215.4(JAK3):c.*73T>C	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328496	NM_000215.4(JAK3):c.*36G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3050786	NM_000215.4(JAK3):c.*10G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	JAK3-related disorder	GLikely benign
Select item 2696185	NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)	JAK3	Insertion (nonsense +1 more)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 646334	NM_000215.4(JAK3):c.3371C>T (p.Ser1124Leu)	JAK3 (S1124L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 732476	NM_000215.4(JAK3):c.3366C>T (p.Ser1122=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1079751	NM_000215.4(JAK3):c.3360C>G (p.Ser1120=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 640630	NM_000215.4(JAK3):c.3356A>G (p.His1119Arg)	JAK3 (H1119R)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1579677	NM_000215.4(JAK3):c.3345G>A (p.Glu1115=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2096020	NM_000215.4(JAK3):c.3340C>T (p.Pro1114Ser)	JAK3 (P1114S)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1352749	NM_000215.4(JAK3):c.3337C>T (p.His1113Tyr)	JAK3 (H1113Y)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1995590	NM_000215.4(JAK3):c.3317A>G (p.Glu1106Gly)	JAK3 (E1106G)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2998330	NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2711929	NM_000215.4(JAK3):c.3312G>A (p.Gly1104=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1359421	NM_000215.4(JAK3):c.3308G>A (p.Arg1103Gln)	JAK3 (R1103Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 532757	NM_000215.4(JAK3):c.3300C>T (p.Ser1100=)	JAK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2649556	NM_000215.4(JAK3):c.3289A>C (p.Met1097Leu)	JAK3 (M1097L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892391	NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu)	JAK3 (M1097L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1548912	NM_000215.4(JAK3):c.3282G>A (p.Gln1094=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1321438	NM_000215.4(JAK3):c.3281del (p.Gln1094fs)	JAK3 (Q1094fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2787294	NM_000215.4(JAK3):c.3279C>T (p.Pro1093=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1671453	NM_000215.4(JAK3):c.3276C>T (p.Gly1092=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1136088	NM_000215.4(JAK3):c.3276C>A (p.Gly1092=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2917028	NM_000215.4(JAK3):c.3275G>A (p.Gly1092Asp)	JAK3 (G1092D)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2891836	NM_000215.4(JAK3):c.3274G>A (p.Gly1092Ser)	JAK3 (G1092S)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2973138	NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2826233	NM_000215.4(JAK3):c.3270C>A (p.Ala1090=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2466271	NM_000215.4(JAK3):c.3269C>A (p.Ala1090Asp)	JAK3 (A1090D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 134579	NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)	JAK3 (A1090T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenignFDA Recognized database
Select item 706218	NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 523048	NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)	JAK3 (P1086L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 1497167	NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)	JAK3 (R1085Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GUncertain significance
Select item 495735	NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)	JAK3 (R1085W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2897982	NM_000215.4(JAK3):c.3252C>T (p.Asp1084=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2801557	NM_000215.4(JAK3):c.3225G>A (p.Lys1075=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 861674	NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe)	JAK3 (L1073F)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1475913	NM_000215.4(JAK3):c.3214G>C (p.Glu1072Gln)	JAK3 (E1072Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance

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