"Martin Pollak Laboratory, Beth Israel Deaconess Medical Center"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64550	NM_004795.4(KL):c.387C>T (p.Tyr129=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 64551	NM_004795.4(KL):c.497A>G (p.Asn166Ser)	KL (N166S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 64552	NM_004795.4(KL):c.639C>A (p.Ala213=)	KL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64545	NM_004795.4(KL):c.2505C>G (p.Asp835Glu)	KL (D835E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64546	NM_004795.4(KL):c.2683A>G (p.Ile895Val)	KL (I895V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64547	NM_004795.4(KL):c.2684T>C (p.Ile895Thr)	KL (I895T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 64548	NM_004795.4(KL):c.2862G>A (p.Pro954=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 64549	NM_004795.4(KL):c.3029G>A (p.Ser1010Asn)	KL (S1010N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar