C3279990[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474982	NM_007315.4(STAT1):c.2136T>G (p.Val712=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	STAT1-related condition +3 more	GBenign
Select item 632063	NM_007315.4(STAT1):c.2087C>A (p.Pro696His)	STAT1 (P696H +10 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 333264	NM_007315.4(STAT1):c.1874-8C>T	STAT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 333265	NM_007315.4(STAT1):c.1872C>T (p.Gly624=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GBenign/Likely benign
Select item 333266	NM_007315.4(STAT1):c.1866C>T (p.Asn622=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 333267	NM_007315.4(STAT1):c.1727+13G>A	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333268	NM_007315.4(STAT1):c.1727+12C>T	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign/Likely benign
Select item 897449	NM_007315.4(STAT1):c.1713T>G (p.Pro571=)	STAT1	Single nucleotide variant (synonymous variant)	Immunodeficiency 31B +2 more	GConflicting classifications of pathogenicity
Select item 333269	NM_007315.4(STAT1):c.1707G>A (p.Leu569=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 333271	NM_007315.4(STAT1):c.1632+6G>A	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +3 more	GConflicting classifications of pathogenicity
Select item 898612	NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser)	STAT1 (N515S +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333272	NM_007315.4(STAT1):c.1347+8T>G	STAT1	Single nucleotide variant (intron variant)	STAT1-related condition +4 more	GBenign/Likely benign
Select item 333273	NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu)	STAT1 (D447E +9 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 333274	NM_007315.4(STAT1):c.1314A>G (p.Gln438=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign
Select item 333275	NM_007315.4(STAT1):c.1263+7G>A	STAT1	Single nucleotide variant (intron variant)	STAT1-related condition +4 more	GBenign/Likely benign
Select item 650110	NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg)	STAT1 (T419R +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 333277	NM_007315.4(STAT1):c.1222-3T>C	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 252674	NM_007315.4(STAT1):c.1222-5T>C	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 333278	NM_007315.4(STAT1):c.1222-9G>T	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +3 more	GBenign/Likely benign
Select item 333279	NM_007315.4(STAT1):c.1155G>A (p.Thr385=)	STAT1	Single nucleotide variant (synonymous variant)	Immunodeficiency 31B +4 more	GBenign/Likely benign
Select item 333280	NM_007315.4(STAT1):c.1127+10G>A	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GBenign/Likely benign
Select item 333281	NM_007315.4(STAT1):c.1116T>C (p.Asn372=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign
Select item 333282	NM_007315.4(STAT1):c.1097+10C>G	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign
Select item 333283	NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu)	STAT1 (F364L +6 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333284	NM_007315.4(STAT1):c.990G>A (p.Gln330=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 643417	NM_007315.4(STAT1):c.970T>C (p.Cys324Arg)	STAT1 (C324R +5 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely pathogenic
Select item 541829	NM_007315.4(STAT1):c.825G>A (p.Gln275=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	STAT1-related condition +3 more	GBenign/Likely benign
Select item 333285	NM_007315.4(STAT1):c.796G>A (p.Val266Ile)	STAT1 (V266I +4 more)	Single nucleotide variant (missense variant +1 more)	STAT1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 897034	NM_007315.4(STAT1):c.786-12G>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 897035	NM_007315.4(STAT1):c.735C>T (p.Ser245=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333286	NM_007315.4(STAT1):c.722G>A (p.Arg241Gln)	STAT1 (R241Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 333288	NM_007315.4(STAT1):c.634-13C>T	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign
Select item 333289	NM_007315.4(STAT1):c.633+6T>A	STAT1	Single nucleotide variant (intron variant)	STAT1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 897517	NM_007315.4(STAT1):c.372+13C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333290	NM_007315.4(STAT1):c.354C>T (p.Asn118=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GBenign
Select item 333291	NM_007315.4(STAT1):c.274-4C>G	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +3 more	GLikely benign
Select item 712811	NM_007315.4(STAT1):c.201A>G (p.Gln67=)	STAT1	Single nucleotide variant (synonymous variant)	Immunodeficiency 31B +3 more	GConflicting classifications of pathogenicity
Select item 333292	NM_007315.4(STAT1):c.186A>G (p.Ser62=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 333293	NM_007315.4(STAT1):c.63T>C (p.Leu21=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +4 more	GBenign

ClinVar

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Items: 39