Related gene-specific medical variations for Gene (Select 51192) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267485	NM_001204099.2(CKLF-CMTM1):c.166A>G (p.Ile56Val)	CKLF, CKLF-CMTM1 (I56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267484	NM_016951.4(CKLF):c.371A>G (p.Asp124Gly)	CKLF, CKLF-CMTM1 (D92G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145251	NM_001204099.2(CKLF-CMTM1):c.13C>A (p.Gln5Lys)	CKLF, CKLF-CMTM1 (Q5K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145250	NM_016951.4(CKLF):c.372C>G (p.Asp124Glu)	CKLF, CKLF-CMTM1 (D124E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396471	NM_016951.4(CKLF):c.308C>A (p.Thr103Asn)	CKLF, CKLF-CMTM1 (T103N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276843	NM_016951.4(CKLF):c.338T>C (p.Phe113Ser)	CKLF, CKLF-CMTM1 (F28S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235448	NM_016951.4(CKLF):c.286G>A (p.Val96Met)	CKLF, CKLF-CMTM1 (V43M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782141	NM_016951.4(CKLF):c.435G>A (p.Val145=)	CKLF, CKLF-CMTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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