STAT6[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3171139	NM_003153.5(STAT6):c.2482C>T (p.His828Tyr)	STAT6 (H718Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733916	NM_003153.5(STAT6):c.2408C>A (p.Thr803Asn)	STAT6 (T693N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643109	NM_003153.5(STAT6):c.2259T>C (p.Ala753=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2328726	NM_003153.5(STAT6):c.2257G>A (p.Ala753Thr)	STAT6 (A753T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305870	NM_003153.5(STAT6):c.2207T>C (p.Phe736Ser)	STAT6 (F626S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487552	NM_003153.5(STAT6):c.2162C>T (p.Pro721Leu)	STAT6 (P721L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735025	NM_003153.5(STAT6):c.2154C>T (p.Phe718=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 733917	NM_003153.5(STAT6):c.2140G>A (p.Val714Met)	STAT6 (V714M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2254103	NM_003153.5(STAT6):c.1852A>G (p.Lys618Glu)	STAT6 (K508E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171137	NM_003153.5(STAT6):c.1820G>A (p.Arg607Gln)	STAT6 (R497Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336238	NM_003153.5(STAT6):c.1819C>T (p.Arg607Trp)	STAT6 (R607W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205744	NM_003153.5(STAT6):c.1810G>A (p.Asp604Asn)	STAT6 (D604N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621247	NM_003153.5(STAT6):c.1748C>G (p.Ser583Cys)	STAT6 (S473C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778078	NM_003153.5(STAT6):c.1744+9A>C	STAT6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3171136	NM_003153.5(STAT6):c.1730T>C (p.Ile577Thr)	STAT6 (I577T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505708	NM_003153.5(STAT6):c.1718T>C (p.Ile573Thr)	STAT6 (I463T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719355	NM_003153.5(STAT6):c.1692C>T (p.Ser564=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2540615	NM_003153.5(STAT6):c.1589G>A (p.Arg530Gln)	STAT6 (R420Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582691	NM_003153.5(STAT6):c.1555G>C (p.Asp519His)	STAT6 (D519H +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 2526693	NM_003153.5(STAT6):c.1515G>T (p.Glu505Asp)	STAT6 (E505D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274981	NM_003153.5(STAT6):c.1508A>G (p.Asn503Ser)	STAT6 (N393S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171135	NM_003153.5(STAT6):c.1502A>T (p.Gln501Leu)	STAT6 (Q501L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459530	NM_003153.5(STAT6):c.1397A>G (p.Asn466Ser)	STAT6 (N466S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323907	NM_003153.5(STAT6):c.1312G>A (p.Val438Met)	STAT6 (V328M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643110	NM_003153.5(STAT6):c.1302G>A (p.Glu434=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724684	NM_003153.5(STAT6):c.1266C>A (p.Ala422=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582687	NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)	STAT6 (D419G +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 2582689	NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	STAT6 (D419H +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 2582688	NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)	STAT6 (D419Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 778986	NM_003153.5(STAT6):c.1213-6C>T	STAT6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2509185	NM_003153.5(STAT6):c.1153G>A (p.Ala385Thr)	STAT6 (A275T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582690	NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)	STAT6 (E382Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 2582692	NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)	STAT6 (E372K +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	GPathogenic
Select item 2535703	NM_003153.5(STAT6):c.1073C>T (p.Ala358Val)	STAT6 (A248V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488988	NM_003153.5(STAT6):c.1037C>T (p.Pro346Leu)	STAT6 (P346L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778079	NM_003153.5(STAT6):c.1001+10G>A	STAT6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2303413	NM_003153.5(STAT6):c.964C>T (p.Arg322Trp)	STAT6 (R212W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 762678	NM_003153.5(STAT6):c.948G>A (p.Val316=)	STAT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 778987	NM_003153.5(STAT6):c.805G>A (p.Val269Ile)	STAT6 (V159I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2531823	NM_003153.5(STAT6):c.754A>C (p.Lys252Gln)	STAT6 (K142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406168	NM_003153.5(STAT6):c.734C>T (p.Ala245Val)	STAT6 (A245V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349229	NM_003153.5(STAT6):c.659G>A (p.Ser220Asn)	STAT6 (S220N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379811	NM_003153.5(STAT6):c.541A>G (p.Met181Val)	STAT6 (M181V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323400	NM_003153.5(STAT6):c.429G>C (p.Glu143Asp)	STAT6 (E143D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323278	NM_003153.5(STAT6):c.403C>T (p.Arg135Trp)	STAT6 (R135W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171140	NM_003153.5(STAT6):c.344G>A (p.Arg115His)	STAT6 (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2281957	NM_003153.5(STAT6):c.343C>T (p.Arg115Cys)	STAT6 (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389286	NM_003153.5(STAT6):c.333G>A (p.Met111Ile)	STAT6 (M111I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 100843	NM_003153.5(STAT6):c.278T>G (p.Leu93Arg)	STAT6 (L93R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2347754	NM_003153.5(STAT6):c.273C>A (p.Asp91Glu)	STAT6 (D91E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3171138	NM_003153.5(STAT6):c.211C>G (p.Gln71Glu)	STAT6 (Q71E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 727949	NM_003153.5(STAT6):c.135C>T (p.Ser45=)	STAT6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2471763	NM_003153.5(STAT6):c.130G>A (p.Gly44Ser)	STAT6 (G44S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 61