"PreventionGenetics, part of Exact Sciences"[submitter] AND "KLB"[gene - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1634175	NM_175737.4(KLB):c.26C>A (p.Ser9Tyr)	KLB (S9Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3046714	NM_175737.4(KLB):c.166G>A (p.Asp56Asn)	KLB (D56N)	Single nucleotide variant (missense variant)	KLB-related disorder	GLikely benign
Select item 713075	NM_175737.4(KLB):c.497T>C (p.Val166Ala)	KLB (V166A)	Single nucleotide variant (missense variant)	KLB-related disorder +1 more	GBenign/Likely benign
Select item 748396	NM_175737.4(KLB):c.624G>A (p.Gly208=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related disorder +1 more	GLikely benign
Select item 3039077	NM_175737.4(KLB):c.738T>C (p.Ala246=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related disorder	GLikely benign
Select item 1639582	NM_175737.4(KLB):c.1050C>T (p.Ser350=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related disorder +1 more	GLikely benign
Select item 724602	NM_175737.4(KLB):c.1197G>A (p.Ala399=)	KLB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 709177	NM_175737.4(KLB):c.1956C>G (p.Pro652=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related disorder +1 more	GLikely benign
Select item 1599207	NM_175737.4(KLB):c.2240C>T (p.Ala747Val)	KLB (A747V)	Single nucleotide variant (missense variant)	KLB-related disorder +1 more	GBenign
Select item 598141	NM_175737.4(KLB):c.2329_2331del (p.Phe777del)	KLB (F777del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3040897	NM_175737.4(KLB):c.2580G>A (p.Thr860=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	KLB-related disorder	GLikely benign
Select item 708321	NM_175737.4(KLB):c.2947A>G (p.Thr983Ala)	KLB (T983A)	Single nucleotide variant (missense variant)	KLB-related disorder +1 more	GLikely benign
Select item 1287276	NM_175737.4(KLB):c.3058C>A (p.Gln1020Lys)	KLB (Q1020K)	Single nucleotide variant (missense variant)	KLB-related disorder +1 more	GBenign
Select item 719953	NM_175737.4(KLB):c.3124G>A (p.Val1042Ile)	KLB (V1042I)	Single nucleotide variant (missense variant)	KLB-related disorder +1 more	GLikely benign