CBY2[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138086	NM_152719.3(CBY2):c.107A>G (p.Asp36Gly)	CBY2 (D36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138088	NM_152719.3(CBY2):c.122G>A (p.Ser41Asn)	CBY2 (S41N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463871	NM_152719.3(CBY2):c.151C>T (p.Pro51Ser)	CBY2 (P51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643805	NM_152719.3(CBY2):c.157-8T>C	CBY2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2495625	NM_152719.3(CBY2):c.304C>T (p.Pro102Ser)	CBY2 (P75S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138094	NM_152719.3(CBY2):c.307A>G (p.Met103Val)	CBY2 (M67V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138095	NM_152719.3(CBY2):c.331G>A (p.Asp111Asn)	CBY2 (D75N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263696	NM_152719.3(CBY2):c.353C>T (p.Pro118Leu)	CBY2 (P118L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263693	NM_152719.3(CBY2):c.422G>A (p.Arg141His)	CBY2 (R141H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138096	NM_152719.3(CBY2):c.511G>A (p.Glu171Lys)	CBY2 (E135K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138097	NM_152719.3(CBY2):c.547C>A (p.Arg183Ser)	CBY2 (R147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138098	NM_152719.3(CBY2):c.550G>A (p.Glu184Lys)	CBY2 (E184K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138099	NM_152719.3(CBY2):c.577A>G (p.Asn193Asp)	CBY2 (N166D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138100	NM_152719.3(CBY2):c.584T>C (p.Ile195Thr)	CBY2 (I195T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138101	NM_152719.3(CBY2):c.591G>C (p.Gln197His)	CBY2 (Q197H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138102	NM_152719.3(CBY2):c.600G>C (p.Trp200Cys)	CBY2 (W164C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509504	NM_152719.3(CBY2):c.625C>G (p.Arg209Gly)	CBY2 (R182G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138103	NM_152719.3(CBY2):c.631G>A (p.Glu211Lys)	CBY2 (E184K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543182	NM_152719.3(CBY2):c.641C>T (p.Ala214Val)	CBY2 (A178V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138105	NM_152719.3(CBY2):c.644C>G (p.Pro215Arg)	CBY2 (P179R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138106	NM_152719.3(CBY2):c.683T>C (p.Val228Ala)	CBY2 (V201A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138107	NM_152719.3(CBY2):c.712G>A (p.Val238Met)	CBY2 (V202M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485239	NM_152719.3(CBY2):c.719G>A (p.Arg240His)	CBY2 (R204H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138108	NM_152719.3(CBY2):c.806C>T (p.Ala269Val)	CBY2 (A233V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263695	NM_152719.3(CBY2):c.860C>T (p.Pro287Leu)	CBY2 (P251L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469756	NM_152719.3(CBY2):c.862C>G (p.His288Asp)	CBY2 (H252D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138109	NM_152719.3(CBY2):c.864C>G (p.His288Gln)	CBY2 (H252Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549878	NM_152719.3(CBY2):c.874T>G (p.Cys292Gly)	CBY2 (C292G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621192	NM_152719.3(CBY2):c.957G>T (p.Glu319Asp)	CBY2 (E292D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138110	NM_152719.3(CBY2):c.990G>A (p.Met330Ile)	CBY2 (M303I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509027	NM_152719.3(CBY2):c.1034T>C (p.Val345Ala)	CBY2 (V309A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138084	NM_152719.3(CBY2):c.1046T>G (p.Leu349Arg)	CBY2 (L313R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138085	NM_152719.3(CBY2):c.1051G>A (p.Asp351Asn)	CBY2 (D324N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535092	NM_152719.3(CBY2):c.1101G>C (p.Gln367His)	CBY2 (Q340H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490023	NM_152719.3(CBY2):c.1140C>G (p.Asn380Lys)	CBY2 (N380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138087	NM_152719.3(CBY2):c.1199T>C (p.Leu400Pro)	CBY2 (L364P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597820	NM_152719.3(CBY2):c.1212C>G (p.Asn404Lys)	CBY2 (N368K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138089	NM_152719.3(CBY2):c.1272G>C (p.Met424Ile)	CBY2 (M388I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138090	NM_152719.3(CBY2):c.1285G>A (p.Glu429Lys)	CBY2 (E402K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138091	NM_152719.3(CBY2):c.1295A>G (p.Tyr432Cys)	CBY2 (Y432C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138092	NM_152719.3(CBY2):c.1312A>G (p.Arg438Gly)	CBY2 (R438G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620740	NM_152719.3(CBY2):c.1316G>T (p.Ser439Ile)	CBY2 (S403I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138093	NM_152719.3(CBY2):c.1342G>T (p.Val448Phe)	CBY2 (V448F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43