9620[geneid] - ClinVar - NCBI

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	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 155500	GRCh38/hg38 22q13.31(chr22:46271847-46482065)x1	CELSR1, GTSE1 +13 more	Copy number loss	See cases	GUncertain significance
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 777752	NM_001378328.1(CELSR1):c.9042TAATGAAACTTCAATTTGAACCATCAG[1] (p.Gly3013_Ter3020=)	CELSR1	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 2387957	NM_001378328.1(CELSR1):c.9020A>C (p.Asp3007Ala)	CELSR1 (D3007A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260848	NM_001378328.1(CELSR1):c.9009C>A (p.Ser3003Arg)	CELSR1 (S3003R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353461	NM_001378328.1(CELSR1):c.8999G>A (p.Arg3000His)	CELSR1 (R3000H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336521	NM_001378328.1(CELSR1):c.8990T>C (p.Met2997Thr)	CELSR1 (M2997T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720966	NM_001378328.1(CELSR1):c.8988C>G (p.Ala2996=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046159	NM_001378328.1(CELSR1):c.8979C>T (p.Asn2993=)	CELSR1	Single nucleotide variant (synonymous variant)	CELSR1-related disorder	GLikely benign
Select item 782760	NM_001378328.1(CELSR1):c.8961G>A (p.Pro2987=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777753	NM_001378328.1(CELSR1):c.8947C>G (p.Pro2983Ala)	CELSR1 (P2983A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3364215	NM_001378328.1(CELSR1):c.8911T>C (p.Ser2971Pro)	CELSR1 (S2971P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340820	NM_001378328.1(CELSR1):c.8909G>A (p.Gly2970Asp)	CELSR1 (G2970D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2239339	NM_001378328.1(CELSR1):c.8900C>T (p.Ser2967Phe)	CELSR1 (S2967F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716653	NM_001378328.1(CELSR1):c.8886_8897del (p.Arg2965_Ser2968del)	CELSR1	Deletion (inframe_deletion)	not provided	GBenign
Select item 3036476	NM_001378328.1(CELSR1):c.8892G>A (p.Ser2964=)	CELSR1	Single nucleotide variant (synonymous variant)	CELSR1-related disorder	GLikely benign
Select item 781530	NM_001378328.1(CELSR1):c.8891C>T (p.Ser2964Leu)	CELSR1 (S2964L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142021	NM_001378328.1(CELSR1):c.8863G>A (p.Ala2955Thr)	CELSR1 (A2955T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355670	NM_001378328.1(CELSR1):c.8852G>A (p.Arg2951Gln)	CELSR1 (R2951Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339019	NM_001378328.1(CELSR1):c.8851C>T (p.Arg2951Trp)	CELSR1 (R2951W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392364	NM_001378328.1(CELSR1):c.8845C>T (p.Arg2949Trp)	CELSR1 (R2949W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257697	NM_001378328.1(CELSR1):c.8842G>A (p.Gly2948Ser)	CELSR1 (G2948S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142020	NM_001378328.1(CELSR1):c.8834C>T (p.Thr2945Met)	CELSR1 (T2945M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226210	NM_001378328.1(CELSR1):c.8826G>A (p.Thr2942=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458080	NM_001378328.1(CELSR1):c.8825C>T (p.Thr2942Met)	CELSR1 (T2942M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653306	NM_001378328.1(CELSR1):c.8813C>A (p.Pro2938Gln)	CELSR1 (P2938Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423493	NM_001378328.1(CELSR1):c.8807C>T (p.Pro2936Leu)	CELSR1 (P2936L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 828040	NM_001378328.1(CELSR1):c.8719dup (p.Asp2907fs)	CELSR1 (D2907fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1176447	NM_001378328.1(CELSR1):c.8718G>A (p.Pro2906=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056526	NM_001378328.1(CELSR1):c.8707G>C (p.Glu2903Gln)	CELSR1 (E2903Q)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GBenign
Select item 2343994	NM_001378328.1(CELSR1):c.8681G>T (p.Arg2894Leu)	CELSR1 (R2894L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376615	NM_001378328.1(CELSR1):c.8680C>T (p.Arg2894Cys)	CELSR1 (R2894C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710168	NM_001378328.1(CELSR1):c.8679C>T (p.His2893=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256484	NM_001378328.1(CELSR1):c.8669T>C (p.Val2890Ala)	CELSR1 (V2890A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142019	NM_001378328.1(CELSR1):c.8668G>A (p.Val2890Met)	CELSR1 (V2890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396709	NM_001378328.1(CELSR1):c.8657C>T (p.Thr2886Ile)	CELSR1 (T2886I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258284	NM_001378328.1(CELSR1):c.8641C>T (p.Arg2881Cys)	CELSR1 (R2881C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380290	NM_001378328.1(CELSR1):c.8630G>T (p.Ser2877Ile)	CELSR1 (S2877I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3351539	NM_001378328.1(CELSR1):c.8618G>A (p.Ser2873Asn)	CELSR1 (S2873N)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GUncertain significance
Select item 2547001	NM_001378328.1(CELSR1):c.8617A>C (p.Ser2873Arg)	CELSR1 (S2873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142018	NM_001378328.1(CELSR1):c.8593G>A (p.Asp2865Asn)	CELSR1 (D2865N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271765	NM_001378328.1(CELSR1):c.8589G>T (p.Trp2863Cys)	CELSR1 (W2863C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230509	NM_001378328.1(CELSR1):c.8584G>A (p.Gly2862Ser)	CELSR1 (G2862S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653307	NM_001378328.1(CELSR1):c.8579C>T (p.Pro2860Leu)	CELSR1 (P2860L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2224602	NM_001378328.1(CELSR1):c.8575G>A (p.Val2859Ile)	CELSR1 (V2859I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3352263	NM_001378328.1(CELSR1):c.8555-10C>G	CELSR1	Single nucleotide variant (intron variant)	CELSR1-related disorder	GLikely benign
Select item 1344531	NM_001378328.1(CELSR1):c.8554+2T>C	CELSR1	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 2257096	NM_001378328.1(CELSR1):c.8548C>T (p.Pro2850Ser)	CELSR1 (P2850S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142017	NM_001378328.1(CELSR1):c.8536G>A (p.Val2846Ile)	CELSR1 (V2846I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3257461	NM_001378328.1(CELSR1):c.8527del (p.Arg2843fs)	CELSR1 (R2843fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2629469	NM_001378328.1(CELSR1):c.8474C>T (p.Ser2825Leu)	CELSR1 (S2825L)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GUncertain significance
Select item 2521964	NM_001378328.1(CELSR1):c.8444A>T (p.Glu2815Val)	CELSR1 (E2815V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709008	NM_001378328.1(CELSR1):c.8415C>T (p.Ser2805=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596494	NM_001378328.1(CELSR1):c.8398C>T (p.Pro2800Ser)	CELSR1 (P2800S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060193	NM_001378328.1(CELSR1):c.8390G>C (p.Cys2797Ser)	CELSR1 (C2797S)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GBenign
Select item 3142016	NM_001378328.1(CELSR1):c.8384G>T (p.Arg2795Met)	CELSR1 (R2795M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725656	NM_001378328.1(CELSR1):c.8367C>T (p.Asp2789=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3265738	NM_001378328.1(CELSR1):c.8356G>A (p.Gly2786Arg)	CELSR1 (G2786R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777754	NM_001378328.1(CELSR1):c.8319G>A (p.Lys2773=)	CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787510	NM_001378328.1(CELSR1):c.8300+8C>T	CELSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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