Related gene-specific medical variations for Gene (Select 6491) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690166	NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)	STIL (L290F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2690165	NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)	STIL	Microsatellite (nonsense)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2436508	NM_001048166.1(STIL):c.417A>G (p.Ile139Met)	STIL (I139M)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2433997	NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)	STIL (N1115fs +4 more)	Microsatellite (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 1319347	NM_001048166.1(STIL):c.2218A>G (p.Ile740Val)	STIL (I693V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977229	NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs)	STIL (L735fs +1 more)	Deletion (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 445917	NM_001048166.1(STIL):c.1778C>G (p.Pro593Arg)	STIL (P593R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21356	NM_001048166.1(STIL):c.2957A>G (p.His986Arg)	STIL (H986R +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided
Select item 21355	NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr)	STIL (S953Y +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided
Select item 21353	NM_001048166.1(STIL):c.1263A>C (p.Gln421His)	STIL (Q421H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided
Select item 21352	NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro)	STIL (Q421P +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided