Related gene-specific medical variations for Gene (Select 6772) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064846	NM_007315.4(STAT1):c.185C>A (p.Ser62Ter)	STAT1 (S62* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 31B	GLikely pathogenic
Select item 2436505	NM_007315.4(STAT1):c.1582+54C>A	STAT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 931356	NM_007315.4(STAT1):c.1280C>A (p.Thr427Asn)	STAT1 (T427N +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency 31B	GUncertain significance
Select item 898672	NM_007315.4(STAT1):c.-268C>T	LOC129935278, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 898671	NM_007315.4(STAT1):c.-195G>A	LOC129935278, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 898670	NM_007315.4(STAT1):c.-189C>G	LOC129935278, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 895686	NM_007315.4(STAT1):c.-306T>G	LOC129935279, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333296	NM_007315.4(STAT1):c.-213C>T	LOC129935278, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333295	NM_007315.4(STAT1):c.-155-11T>A	LOC129935277, STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333294	NM_007315.4(STAT1):c.-140G>C	LOC129935277, STAT1	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign