Related gene-specific medical variations for Gene (Select 1215) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2361729	NM_001836.5(CMA1):c.70G>A (p.Gly24Arg)	CMA1, LOC126861902 (G24R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315924	NM_001836.5(CMA1):c.177C>A (p.Asn59Lys)	LOC126861902, CMA1 (N59K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263950	NM_001836.5(CMA1):c.145A>G (p.Lys49Glu)	CMA1, LOC126861902 (K49E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234943	NM_001836.5(CMA1):c.77C>G (p.Thr26Arg)	CMA1, LOC126861902 (T26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708801	NM_001836.5(CMA1):c.136G>C (p.Gly46Arg)	CMA1, LOC126861902 (G46R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 226241	GRCh37/hg19 14q12(chr14:24947323-24986166)	CMA1	Copy number gain	Abnormal esophagus morphology	GLikely benign

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