"KL-related condition"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881810	NM_004795.4(KL):c.326T>G (p.Leu109Arg)	KL (L109R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign
Select item 1556653	NM_004795.4(KL):c.537G>C (p.Arg179=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign/Likely benign
Select item 1596590	NM_004795.4(KL):c.807C>G (p.His269Gln)	KL, LOC130009539 (H269Q)	Single nucleotide variant (missense variant)	KL-related condition +1 more	GLikely benign
Select item 881861	NM_004795.4(KL):c.1188A>G (p.Gln396=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1599274	NM_004795.4(KL):c.1371A>C (p.Ala457=)	KL	Single nucleotide variant (synonymous variant)	KL-related condition +2 more	GBenign/Likely benign
Select item 883027	NM_004795.4(KL):c.1419G>A (p.Arg473=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GConflicting classifications of pathogenicity
Select item 881480	NM_004795.4(KL):c.2296G>A (p.Gly766Ser)	KL (G766S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign/Likely benign
Select item 881484	NM_004795.4(KL):c.2532G>A (p.Gln844=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign/Likely benign
Select item 311706	NM_004795.4(KL):c.2626G>A (p.Asp876Asn)	KL (D876N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1649898	NM_004795.4(KL):c.2811C>T (p.Pro937=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GLikely benign
Select item 311709	NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys)	KL (Y1003C)	Single nucleotide variant (missense variant)	KL-related condition +2 more	GBenign