ClinVar for Gene (Select 200186) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LCE2A, SPRR2B +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55