Related gene-specific medical variations for Gene (Select 152831) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115204	NM_175737.4(KLB):c.2500G>C (p.Glu834Gln)	KLB, LOC129992452 (E834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115203	NM_175737.4(KLB):c.2408T>C (p.Leu803Pro)	KLB, LOC129992452 (L803P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040897	NM_175737.4(KLB):c.2580G>A (p.Thr860=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	KLB-related condition	GLikely benign
Select item 2893510	NM_175737.4(KLB):c.2417T>G (p.Leu806Arg)	KLB, LOC129992452 (L806R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858954	NM_175737.4(KLB):c.2418C>T (p.Leu806=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2732139	NM_175737.4(KLB):c.2403G>C (p.Ser801=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257585	NM_175737.4(KLB):c.2524G>A (p.Asp842Asn)	KLB, LOC129992452 (D842N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2152772	NM_175737.4(KLB):c.2550G>C (p.Leu850=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051293	NM_175737.4(KLB):c.2527T>C (p.Ser843Pro)	KLB, LOC129992452 (S843P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037564	NM_175737.4(KLB):c.2491G>T (p.Val831Leu)	KLB, LOC129992452 (V831L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1913849	NM_175737.4(KLB):c.2403G>T (p.Ser801=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585172	NM_175737.4(KLB):c.2540T>A (p.Ile847Asn)	KLB, LOC129992452 (I847N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1565134	NM_175737.4(KLB):c.2487G>A (p.Arg829=)	KLB, LOC129992452	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438209	NM_175737.4(KLB):c.2443A>G (p.Lys815Glu)	KLB, LOC129992452 (K815E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344743	NM_175737.4(KLB):c.2723G>T (p.Gly908Val)	KLB (G908V)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344742	NM_175737.4(KLB):c.505G>A (p.Ala169Thr)	KLB (A169T)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance