Related gene-specific medical variations for Gene (Select 57082) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689335	NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)	KNL1 (A493T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2441015	NM_144508.5(KNL1):c.197_197+4del	KNL1	Deletion (splice donor variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 2433259	NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)	KNL1 (Q2195R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1701689	NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn)	KNL1 (S1022N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1319811	NM_144508.5(KNL1):c.2616G>A (p.Met872Ile)	KNL1 (M872I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 686113	GRCh37/hg19 15q15.1(chr15:40873315-40936676)x3	KNL1	Copy number gain	not provided	GUncertain significance
Select item 445348	NM_144508.5(KNL1):c.5130dup (p.Ile1711fs)	KNL1 (I1737fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic

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