"Ambry Genetics"[submitter] AND "CRTC2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2472751	NM_181715.3(CRTC2):c.2072G>A (p.Arg691Gln)	CRTC2 (R691Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077674	NM_181715.3(CRTC2):c.2062C>T (p.Arg688Cys)	CRTC2 (R688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077673	NM_181715.3(CRTC2):c.2027C>G (p.Ala676Gly)	CRTC2 (A676G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349467	NM_181715.3(CRTC2):c.1976G>A (p.Arg659His)	CRTC2 (R659H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294880	NM_181715.3(CRTC2):c.1971G>C (p.Glu657Asp)	CRTC2 (E657D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288107	NM_181715.3(CRTC2):c.1925A>G (p.Glu642Gly)	CRTC2 (E642G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399567	NM_181715.3(CRTC2):c.1909G>A (p.Gly637Arg)	CRTC2 (G637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260940	NM_181715.3(CRTC2):c.1883C>T (p.Ser628Phe)	CRTC2 (S628F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077672	NM_181715.3(CRTC2):c.1838C>T (p.Ser613Leu)	CRTC2 (S613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269625	NM_181715.3(CRTC2):c.1826C>G (p.Ser609Cys)	CRTC2 (S609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454839	NM_181715.3(CRTC2):c.1710C>G (p.Ser570Arg)	CRTC2 (S570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077669	NM_181715.3(CRTC2):c.1651A>G (p.Met551Val)	CRTC2 (M551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243925	NM_181715.3(CRTC2):c.1626T>G (p.His542Gln)	CRTC2 (H542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495417	NM_181715.3(CRTC2):c.1609C>T (p.Pro537Ser)	CRTC2 (P537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543828	NM_181715.3(CRTC2):c.1454C>T (p.Pro485Leu)	CRTC2 (P485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345678	NM_181715.3(CRTC2):c.1408G>A (p.Val470Ile)	CRTC2 (V470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077668	NM_181715.3(CRTC2):c.1375A>G (p.Met459Val)	CRTC2 (M459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077667	NM_181715.3(CRTC2):c.1300C>A (p.Pro434Thr)	CRTC2 (P434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309786	NM_181715.3(CRTC2):c.1286G>A (p.Arg429His)	CRTC2 (R429H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347720	NM_181715.3(CRTC2):c.1249C>T (p.Pro417Ser)	CRTC2 (P417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358630	NM_181715.3(CRTC2):c.1157C>T (p.Ser386Phe)	CRTC2 (S386F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077666	NM_181715.3(CRTC2):c.1121C>T (p.Ala374Val)	CRTC2 (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406031	NM_181715.3(CRTC2):c.1073G>A (p.Ser358Asn)	CRTC2 (S358N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077665	NM_181715.3(CRTC2):c.1052A>G (p.Asn351Ser)	CRTC2 (N351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077664	NM_181715.3(CRTC2):c.1012C>T (p.Leu338Phe)	CRTC2 (L338F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545517	NM_181715.3(CRTC2):c.934C>T (p.His312Tyr)	CRTC2 (H312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378956	NM_181715.3(CRTC2):c.635A>G (p.Lys212Arg)	CRTC2 (K212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269628	NM_181715.3(CRTC2):c.543C>A (p.Asn181Lys)	CRTC2 (N181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316728	NM_181715.3(CRTC2):c.452A>G (p.Asn151Ser)	CRTC2 (N151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269626	NM_181715.3(CRTC2):c.431G>A (p.Arg144Gln)	CRTC2 (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518400	NM_181715.3(CRTC2):c.410C>G (p.Pro137Arg)	CRTC2 (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396041	NM_181715.3(CRTC2):c.352C>G (p.Leu118Val)	CRTC2 (L118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269627	NM_181715.3(CRTC2):c.265C>T (p.His89Tyr)	CRTC2 (H89Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528156	NM_181715.3(CRTC2):c.257G>A (p.Ser86Asn)	CRTC2 (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374977	NM_181715.3(CRTC2):c.218A>G (p.Asn73Ser)	CRTC2 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077671	NM_181715.3(CRTC2):c.173G>A (p.Arg58Gln)	CRTC2 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493491	NM_181715.3(CRTC2):c.166A>G (p.Lys56Glu)	CRTC2 (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622604	NM_181715.3(CRTC2):c.152G>C (p.Arg51Pro)	CRTC2, LOC129931493 (R51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358822	NM_181715.3(CRTC2):c.38C>T (p.Thr13Met)	CRTC2 (T13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39