Related gene-specific medical variations for Gene (Select 138199) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606321	NM_152420.3(CARNMT1):c.65G>A (p.Gly22Asp)	CARNMT1, LOC130001900 (G22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559880	NM_152420.3(CARNMT1):c.1154C>T (p.Thr385Ile)	CARNMT1, CARNMT1-AS1 (T385I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534158	NM_152420.3(CARNMT1):c.1122G>C (p.Lys374Asn)	CARNMT1, CARNMT1-AS1 (K295N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410098	NM_152420.3(CARNMT1):c.186G>T (p.Glu62Asp)	CARNMT1, LOC130001900 (E62D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340258	NM_152420.3(CARNMT1):c.1060G>A (p.Glu354Lys)	CARNMT1, CARNMT1-AS1 (E354K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 996578	NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp)	CARNMT1, LOC130001900 (G77D)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic

ClinVar