"PreventionGenetics, part of Exact Sciences"[submitter] AND "STIL"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212323	NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)	STIL (P1193L +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297551	NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe)	STIL (S1171F +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 94095	NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign
Select item 745882	NM_001048166.1(STIL):c.3276C>T (p.Asp1092=)	STIL	Single nucleotide variant (synonymous variant)	STIL-related disorder +1 more	GLikely benign
Select item 94094	NM_001048166.1(STIL):c.2954A>G (p.His985Arg)	STIL (H984R +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign
Select item 194628	NM_001048166.1(STIL):c.2906A>G (p.His969Arg)	STIL (H969R +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 194209	NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	STIL (V788I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 257325	NM_001048166.1(STIL):c.2259C>G (p.Ser753=)	STIL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449275	NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	STIL (S711L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 3041903	NM_001048166.1(STIL):c.1701G>T (p.Pro567=)	STIL	Single nucleotide variant (synonymous variant)	STIL-related disorder	GLikely benign
Select item 2633994	NM_001048166.1(STIL):c.1663C>T (p.Pro555Ser)	STIL (P508S +1 more)	Single nucleotide variant (missense variant)	STIL-related disorder	GUncertain significance
Select item 160051	NM_001048166.1(STIL):c.1452C>G (p.Ser484=)	STIL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 160048	NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)	STIL (A357T +1 more)	Single nucleotide variant (missense variant)	STIL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 282750	NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	STIL (N298D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 199082	NM_001048166.1(STIL):c.873-6G>T	STIL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1638489	NM_001048166.1(STIL):c.741G>A (p.Leu247=)	STIL	Single nucleotide variant (synonymous variant)	STIL-related disorder +1 more	GLikely benign
Select item 21354	NM_001048166.1(STIL):c.257C>T (p.Ala86Val)	STIL (A86V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2631704	NM_001048166.1(STIL):c.187C>T (p.Arg63Ter)	STIL (R63*)	Single nucleotide variant (nonsense)	STIL-related disorder	GLikely pathogenic