ClinVar for Gene (Select 200186) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3269627	NM_181715.3(CRTC2):c.265C>T (p.His89Tyr)	CRTC2 (H89Y)	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 3269625	NM_181715.3(CRTC2):c.1826C>G (p.Ser609Cys)	CRTC2 (S609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	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 3077672	NM_181715.3(CRTC2):c.1838C>T (p.Ser613Leu)	CRTC2 (S613L)	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 3077669	NM_181715.3(CRTC2):c.1651A>G (p.Met551Val)	CRTC2 (M551V)	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 3077666	NM_181715.3(CRTC2):c.1121C>T (p.Ala374Val)	CRTC2 (A374V)	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 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
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 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
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 2543828	NM_181715.3(CRTC2):c.1454C>T (p.Pro485Leu)	CRTC2 (P485L)	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 2518400	NM_181715.3(CRTC2):c.410C>G (p.Pro137Arg)	CRTC2 (P137R)	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 2493491	NM_181715.3(CRTC2):c.166A>G (p.Lys56Glu)	CRTC2 (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2454839	NM_181715.3(CRTC2):c.1710C>G (p.Ser570Arg)	CRTC2 (S570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426580	NC_000001.10:g.(?_153782653)_(153964569_?)del	CREB3L4, CRTC2 +6 more	Deletion	not provided	GPathogenic
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 2399567	NM_181715.3(CRTC2):c.1909G>A (p.Gly637Arg)	CRTC2 (G637R)	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 2378956	NM_181715.3(CRTC2):c.635A>G (p.Lys212Arg)	CRTC2 (K212R)	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 2358822	NM_181715.3(CRTC2):c.38C>T (p.Thr13Met)	CRTC2 (T13M)	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 2349467	NM_181715.3(CRTC2):c.1976G>A (p.Arg659His)	CRTC2 (R659H)	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 2345678	NM_181715.3(CRTC2):c.1408G>A (p.Val470Ile)	CRTC2 (V470I)	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 2309786	NM_181715.3(CRTC2):c.1286G>A (p.Arg429His)	CRTC2 (R429H)	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 2260940	NM_181715.3(CRTC2):c.1883C>T (p.Ser628Phe)	CRTC2 (S628F)	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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1339924	NM_181715.3(CRTC2):c.753-2A>T	CRTC2	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1334493	NM_181715.3(CRTC2):c.172C>T (p.Arg58Ter)	CRTC2 (R58*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979296	GRCh37/hg19 1q21.3(chr1:153866956-154000766)x1	JTB, CREB3L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 979295	GRCh37/hg19 1q21.3(chr1:153761425-153921302)x3	DENND4B, CRTC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 560045	Single allele	CREB3L4, CRTC2 +26 more	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60012	GRCh38/hg38 1q21.3(chr1:153939571-153978276)x1	CREB3L4, CRTC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60