ClinVar for Gene (Select 64781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2616812	NM_022766.6(CERK):c.227A>G (p.Gln76Arg)	CERK (Q76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591560	NM_022766.6(CERK):c.571A>T (p.Ile191Phe)	CERK (I191F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588455	NM_022766.6(CERK):c.416C>T (p.Pro139Leu)	CERK (P139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555237	NM_022766.6(CERK):c.553A>G (p.Ile185Val)	CERK, LOC126863171 (I185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547728	NM_022766.6(CERK):c.565G>C (p.Asp189His)	CERK, LOC126863171 (D189H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546739	NM_022766.6(CERK):c.760G>A (p.Ala254Thr)	CERK (A254T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536825	NM_022766.6(CERK):c.1271G>A (p.Arg424Gln)	CERK (R424Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521532	NM_022766.6(CERK):c.668G>A (p.Arg223Gln)	CERK (R223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517062	NM_022766.6(CERK):c.652G>A (p.Asp218Asn)	CERK (D218N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516923	NM_022766.6(CERK):c.287G>A (p.Arg96His)	CERK (R96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515404	NM_022766.6(CERK):c.667C>T (p.Arg223Trp)	CERK (R223W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514130	NM_022766.6(CERK):c.281G>A (p.Arg94Gln)	CERK (R94Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482062	NM_022766.6(CERK):c.765A>C (p.Glu255Asp)	CERK (E255D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475956	NM_022766.6(CERK):c.1178C>G (p.Ala393Gly)	CERK (A393G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472665	NM_022766.6(CERK):c.1120G>A (p.Ala374Thr)	CERK (A374T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465428	NM_022766.6(CERK):c.784G>A (p.Val262Ile)	CERK (V262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410850	NM_022766.6(CERK):c.1150G>T (p.Val384Phe)	CERK (V384F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386564	NM_022766.6(CERK):c.1201C>T (p.Arg401Cys)	CERK (R401C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380882	NM_022766.6(CERK):c.266T>C (p.Val89Ala)	CERK (V89A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377054	NM_022766.6(CERK):c.1042C>T (p.Arg348Trp)	CERK (R348W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373892	NM_022766.6(CERK):c.1226C>T (p.Pro409Leu)	CERK (P409L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370906	NM_022766.6(CERK):c.200G>A (p.Gly67Glu)	CERK (G67E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368260	NM_022766.6(CERK):c.694C>T (p.Arg232Trp)	CERK (R232W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367547	NM_022766.6(CERK):c.1010C>T (p.Thr337Met)	CERK (T337M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362528	NM_022766.6(CERK):c.844C>T (p.Arg282Cys)	CERK (R282C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361339	NM_022766.6(CERK):c.646G>A (p.Gly216Arg)	CERK (G216R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355449	NM_022766.6(CERK):c.880G>A (p.Gly294Arg)	CERK (G294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353492	NM_022766.6(CERK):c.643G>A (p.Ala215Thr)	CERK (A215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343326	NM_022766.6(CERK):c.712G>A (p.Ala238Thr)	CERK (A238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342760	NM_022766.6(CERK):c.1414C>T (p.Leu472Phe)	CERK (L472F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332239	NM_022766.6(CERK):c.1150G>A (p.Val384Ile)	CERK (V384I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2321374	NM_022766.6(CERK):c.1086G>C (p.Glu362Asp)	CERK (E362D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317584	NM_022766.6(CERK):c.1204C>T (p.Arg402Trp)	CERK (R402W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247332	NM_022766.6(CERK):c.574G>A (p.Val192Ile)	CERK (V192I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242410	NM_022766.6(CERK):c.1393A>C (p.Met465Leu)	CERK (M465L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236068	NM_022766.6(CERK):c.86G>C (p.Arg29Pro)	CERK, LOC130067734 (R29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229190	NM_022766.6(CERK):c.1151T>C (p.Val384Ala)	CERK (V384A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209727	NM_022766.6(CERK):c.1424G>A (p.Gly475Glu)	CERK (G475E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	SMC1B, TAFA5 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816568	GRCh37/hg19 22q13.31(chr22:46799511-47767893)x3	TBC1D22A, GRAMD4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816232	GRCh37/hg19 22q13.31(chr22:46896864-47469215)x3	GRAMD4, CERK +2 more	Copy number gain	not provided	GLikely benign
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 787511	NM_022766.6(CERK):c.339C>T (p.His113=)	CERK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777761	NM_022766.6(CERK):c.1527T>A (p.Pro509=)	CERK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731194	NM_022766.6(CERK):c.1382C>T (p.Thr461Met)	CERK (T461M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 626295	Single allele	ADM2, ALG12 +37 more	Deletion	not provided	GLikely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 565050	GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 565049	GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	BRD1, CELSR1 +41 more	Copy number loss	not provided	GPathogenic
Select item 565048	GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 565047	GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 565005	GRCh37/hg19 22q13.31(chr22:47108225-47753204)x3	CERK, TBC1D22A	Copy number gain	not provided	GLikely benign
Select item 564999	GRCh37/hg19 22q13.31(chr22:46781330-47173786)x3	CELSR1, TBC1D22A +2 more	Copy number gain	not provided	GLikely benign
Select item 564996	GRCh37/hg19 22q13.31(chr22:47094317-47476379)x3	TBC1D22A, CERK	Copy number gain	not provided	GLikely benign
Select item 443889	GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	ACR, ADM2 +44 more	Copy number loss	See cases	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443057	GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	ACR, ADM2 +57 more	Copy number loss	See cases	GPathogenic
Select item 442861	GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1	CDPF1, CELSR1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 442454	GRCh37/hg19 22q13.31(chr22:46977196-48257296)x1	CERK, GRAMD4 +1 more	Copy number loss	See cases	GLikely benign
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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