"Genome-Nilou Lab"[submitter] AND "LOC126862216"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129416	NM_198525.3(KIF7):c.3517+6C>T	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Al-Gazali type +4 more	GBenign
Select item 673962	NM_198525.3(KIF7):c.3319-30A>C	KIF7, LOC126862216	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +3 more	GBenign