Related gene-specific medical variations for Gene (Select 80790) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633782	NM_198390.3(CMIP):c.274G>A (p.Ala92Thr)	CMIP, LOC130059505 (A92T)	Single nucleotide variant (missense variant)	CMIP-related disorder	GUncertain significance
Select item 2631554	NM_198390.3(CMIP):c.300+1del	CMIP, LOC130059505	Deletion (splice donor variant)	CMIP-related disorder	GUncertain significance
Select item 2541617	NM_198390.3(CMIP):c.296C>T (p.Ala99Val)	CMIP, LOC130059505 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808368	GRCh37/hg19 16q23.2-23.3(chr16:81697343-81773209)x1	CMIP	Copy number loss	not provided	GUncertain significance
Select item 931712	NM_198390.3(CMIP):c.1035-1G>A	CMIP	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 815852	GRCh37/hg19 16q23.2(chr16:81517118-81579666)x1	CMIP	Copy number loss	not provided	GUncertain significance
Select item 691425	NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser)	CMIP (T399S +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance

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