Related gene-specific medical variations for Gene (Select 821) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263697	NM_001164444.2(CBY3):c.350G>A (p.Gly117Asp)	CANX, CBY3 (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138113	NM_001164444.2(CBY3):c.329A>G (p.Asn110Ser)	CANX, CBY3 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138112	NM_001164444.2(CBY3):c.223A>G (p.Thr75Ala)	CBY3, CANX (T75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138111	NM_001164444.2(CBY3):c.202C>T (p.His68Tyr)	CANX, CBY3 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613803	NM_001164444.2(CBY3):c.581T>A (p.Met194Lys)	CANX, CBY3 (M194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600649	NM_001164444.2(CBY3):c.582G>A (p.Met194Ile)	CANX, CBY3 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600148	NM_001164444.2(CBY3):c.58G>A (p.Gly20Ser)	CANX, CBY3 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590528	NM_001164444.2(CBY3):c.590T>C (p.Met197Thr)	CANX, CBY3 (M197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538383	NM_001164444.2(CBY3):c.86G>A (p.Gly29Glu)	CANX, CBY3 (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371566	NM_001164444.2(CBY3):c.541C>G (p.Leu181Val)	CANX, CBY3 (L181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354327	NM_001164444.2(CBY3):c.210C>A (p.Ser70Arg)	CANX, CBY3 (S70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349617	NM_001164444.2(CBY3):c.217T>G (p.Trp73Gly)	CANX, CBY3 (W73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310584	NM_001164444.2(CBY3):c.421A>C (p.Thr141Pro)	CANX, CBY3 (T141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291051	NM_001164444.2(CBY3):c.563A>T (p.Asp188Val)	CANX, CBY3 (D188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269094	NM_001164444.2(CBY3):c.387C>G (p.Asn129Lys)	CANX, CBY3 (N129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263422	NM_001164444.2(CBY3):c.142A>T (p.Ser48Cys)	CANX, CBY3 (S48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216559	NM_001164444.2(CBY3):c.197C>T (p.Thr66Met)	CANX, CBY3 (T66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance