"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CLTCL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345957	NM_007098.4(CLTCL1):c.3494G>A (p.Arg1165His)	CLTCL1 (R1165H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380689	NM_007098.4(CLTCL1):c.2399T>A (p.Ile800Asn)	CLTCL1 (I800N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380690	NM_007098.4(CLTCL1):c.2380A>G (p.Asn794Asp)	CLTCL1 (N794D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380691	NM_007098.4(CLTCL1):c.1947+4C>G	CLTCL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380692	NM_007098.4(CLTCL1):c.1336C>G (p.Gln446Glu)	CLTCL1, LOC126863097 (Q446E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380693	NM_007098.4(CLTCL1):c.209G>C (p.Ser70Thr)	CLTCL1 (S70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380694	NM_007098.4(CLTCL1):c.112A>T (p.Ile38Leu)	CLTCL1 (I38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar