64781[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 154

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	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 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 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 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59095	GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	CELSR1, CERK +75 more	Copy number gain	See cases	GUncertain significance
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 146262	GRCh38/hg38 22q13.31(chr22:46370888-47181144)x3	CELSR1, CERK +54 more	Copy number gain	See cases	GLikely benign
Select item 59096	GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3	CELSR1, CERK +55 more	Copy number gain	See cases	GUncertain significance
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 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 3143141	NM_022766.6(CERK):c.1592C>T (p.Pro531Leu)	CERK (P531L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143140	NM_022766.6(CERK):c.1537G>A (p.Val513Ile)	CERK (V513I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777761	NM_022766.6(CERK):c.1527T>A (p.Pro509=)	CERK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209727	NM_022766.6(CERK):c.1424G>A (p.Gly475Glu)	CERK (G475E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342760	NM_022766.6(CERK):c.1414C>T (p.Leu472Phe)	CERK (L472F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242410	NM_022766.6(CERK):c.1393A>C (p.Met465Leu)	CERK (M465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731194	NM_022766.6(CERK):c.1382C>T (p.Thr461Met)	CERK (T461M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3143138	NM_022766.6(CERK):c.1360C>T (p.Arg454Cys)	CERK (R454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536825	NM_022766.6(CERK):c.1271G>A (p.Arg424Gln)	CERK (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373892	NM_022766.6(CERK):c.1226C>T (p.Pro409Leu)	CERK (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143137	NM_022766.6(CERK):c.1205G>A (p.Arg402Gln)	CERK (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317584	NM_022766.6(CERK):c.1204C>T (p.Arg402Trp)	CERK (R402W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386564	NM_022766.6(CERK):c.1201C>T (p.Arg401Cys)	CERK (R401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475956	NM_022766.6(CERK):c.1178C>G (p.Ala393Gly)	CERK (A393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229190	NM_022766.6(CERK):c.1151T>C (p.Val384Ala)	CERK (V384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410850	NM_022766.6(CERK):c.1150G>T (p.Val384Phe)	CERK (V384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332239	NM_022766.6(CERK):c.1150G>A (p.Val384Ile)	CERK (V384I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472665	NM_022766.6(CERK):c.1120G>A (p.Ala374Thr)	CERK (A374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321374	NM_022766.6(CERK):c.1086G>C (p.Glu362Asp)	CERK (E362D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377054	NM_022766.6(CERK):c.1042C>T (p.Arg348Trp)	CERK (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143135	NM_022766.6(CERK):c.1027G>T (p.Asp343Tyr)	CERK (D343Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367547	NM_022766.6(CERK):c.1010C>T (p.Thr337Met)	CERK (T337M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355449	NM_022766.6(CERK):c.880G>A (p.Gly294Arg)	CERK (G294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143145	NM_022766.6(CERK):c.845G>A (p.Arg282His)	CERK (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362528	NM_022766.6(CERK):c.844C>T (p.Arg282Cys)	CERK (R282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465428	NM_022766.6(CERK):c.784G>A (p.Val262Ile)	CERK (V262I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482062	NM_022766.6(CERK):c.765A>C (p.Glu255Asp)	CERK (E255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546739	NM_022766.6(CERK):c.760G>A (p.Ala254Thr)	CERK (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343326	NM_022766.6(CERK):c.712G>A (p.Ala238Thr)	CERK (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368260	NM_022766.6(CERK):c.694C>T (p.Arg232Trp)	CERK (R232W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521532	NM_022766.6(CERK):c.668G>A (p.Arg223Gln)	CERK (R223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515404	NM_022766.6(CERK):c.667C>T (p.Arg223Trp)	CERK (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517062	NM_022766.6(CERK):c.652G>A (p.Asp218Asn)	CERK (D218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361339	NM_022766.6(CERK):c.646G>A (p.Gly216Arg)	CERK (G216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353492	NM_022766.6(CERK):c.643G>A (p.Ala215Thr)	CERK (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247332	NM_022766.6(CERK):c.574G>A (p.Val192Ile)	CERK (V192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591560	NM_022766.6(CERK):c.571A>T (p.Ile191Phe)	CERK (I191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266318	NM_022766.6(CERK):c.565G>A (p.Asp189Asn)	CERK, LOC126863171 (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547728	NM_022766.6(CERK):c.565G>C (p.Asp189His)	CERK, LOC126863171 (D189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555237	NM_022766.6(CERK):c.553A>G (p.Ile185Val)	CERK, LOC126863171 (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588455	NM_022766.6(CERK):c.416C>T (p.Pro139Leu)	CERK (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266319	NM_022766.6(CERK):c.351G>C (p.Gln117His)	CERK (Q117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787511	NM_022766.6(CERK):c.339C>T (p.His113=)	CERK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3143143	NM_022766.6(CERK):c.317G>A (p.Cys106Tyr)	CERK (C106Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516923	NM_022766.6(CERK):c.287G>A (p.Arg96His)	CERK (R96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143142	NM_022766.6(CERK):c.286C>T (p.Arg96Cys)	CERK (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514130	NM_022766.6(CERK):c.281G>A (p.Arg94Gln)	CERK (R94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380882	NM_022766.6(CERK):c.266T>C (p.Val89Ala)	CERK (V89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616812	NM_022766.6(CERK):c.227A>G (p.Gln76Arg)	CERK (Q76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370906	NM_022766.6(CERK):c.200G>A (p.Gly67Glu)	CERK (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 3266320	NM_022766.6(CERK):c.133C>T (p.Pro45Ser)	CERK, LOC130067734 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236068	NM_022766.6(CERK):c.86G>C (p.Arg29Pro)	CERK, LOC130067734 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143144	NM_022766.6(CERK):c.73C>G (p.Leu25Val)	CERK, LOC130067734 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143139	NM_022766.6(CERK):c.13G>A (p.Gly5Arg)	CERK, LOC130067734 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2