GTSE1[gene] - 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 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
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 2401255	NM_016426.7(GTSE1):c.19C>T (p.Arg7Cys)	GTSE1 (R7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103233	NM_016426.7(GTSE1):c.34G>A (p.Ala12Thr)	GTSE1 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736730	NM_016426.7(GTSE1):c.40C>G (p.Arg14Gly)	GTSE1 (R14G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2288486	NM_016426.7(GTSE1):c.58A>G (p.Met20Val)	GTSE1 (M20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621750	NM_016426.7(GTSE1):c.67C>G (p.Pro23Ala)	GTSE1 (P23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777735	NM_016426.7(GTSE1):c.80-8C>T	GTSE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3103229	NM_016426.7(GTSE1):c.289A>G (p.Lys97Glu)	GTSE1 (K97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283138	NM_016426.7(GTSE1):c.301G>A (p.Val101Met)	GTSE1 (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103231	NM_016426.7(GTSE1):c.321A>C (p.Leu107Phe)	GTSE1 (L107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228054	NM_016426.7(GTSE1):c.323T>C (p.Leu108Pro)	GTSE1 (L108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553034	NM_016426.7(GTSE1):c.340A>G (p.Ser114Gly)	GTSE1 (S114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103232	NM_016426.7(GTSE1):c.348C>G (p.Ser116Arg)	GTSE1 (S116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406015	NM_016426.7(GTSE1):c.350G>A (p.Arg117Gln)	GTSE1 (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283131	NM_016426.7(GTSE1):c.388C>T (p.Arg130Trp)	GTSE1 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546580	NM_016426.7(GTSE1):c.463A>G (p.Lys155Glu)	GTSE1 (K155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786697	NM_016426.7(GTSE1):c.477G>A (p.Thr159=)	GTSE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382060	NM_016426.7(GTSE1):c.494C>T (p.Thr165Ile)	GTSE1 (T165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777736	NM_016426.7(GTSE1):c.502C>T (p.Leu168=)	GTSE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3283136	NM_016426.7(GTSE1):c.532G>A (p.Val178Met)	GTSE1 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777737	NM_016426.7(GTSE1):c.532G>T (p.Val178Leu)	GTSE1 (V178L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283130	NM_016426.7(GTSE1):c.536G>A (p.Gly179Asp)	GTSE1 (G179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103234	NM_016426.7(GTSE1):c.539A>T (p.Glu180Val)	GTSE1 (E180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707839	NM_016426.7(GTSE1):c.549C>G (p.Leu183=)	GTSE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2325903	NM_016426.7(GTSE1):c.563C>T (p.Pro188Leu)	GTSE1 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479916	NM_016426.7(GTSE1):c.583G>T (p.Ala195Ser)	GTSE1 (A195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283140	NM_016426.7(GTSE1):c.593G>A (p.Arg198His)	GTSE1 (R198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380006	NM_016426.7(GTSE1):c.605C>T (p.Ala202Val)	GTSE1 (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254427	NM_016426.7(GTSE1):c.643G>C (p.Glu215Gln)	GTSE1 (E215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786698	NM_016426.7(GTSE1):c.656C>T (p.Ala219Val)	GTSE1 (A219V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283143	NM_016426.7(GTSE1):c.680C>T (p.Thr227Ile)	GTSE1 (T227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283132	NM_016426.7(GTSE1):c.686G>A (p.Arg229Lys)	GTSE1 (R229K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353996	NM_016426.7(GTSE1):c.734G>A (p.Gly245Glu)	GTSE1 (G245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323878	NM_016426.7(GTSE1):c.739A>T (p.Ser247Cys)	GTSE1 (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399807	NM_016426.7(GTSE1):c.866A>G (p.Asn289Ser)	GTSE1 (N289S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103235	NM_016426.7(GTSE1):c.872C>T (p.Pro291Leu)	GTSE1 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786699	NM_016426.7(GTSE1):c.877G>A (p.Ala293Thr)	GTSE1 (A293T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726835	NM_016426.7(GTSE1):c.881G>A (p.Gly294Glu)	GTSE1 (G294E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3283133	NM_016426.7(GTSE1):c.896A>G (p.Gln299Arg)	GTSE1 (Q299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361987	NM_016426.7(GTSE1):c.970A>G (p.Ser324Gly)	GTSE1 (S324G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283137	NM_016426.7(GTSE1):c.1081G>C (p.Ala361Pro)	GTSE1 (A361P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103219	NM_016426.7(GTSE1):c.1094G>A (p.Arg365Gln)	GTSE1 (R365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301549	NM_016426.7(GTSE1):c.1099C>G (p.Leu367Val)	GTSE1 (L367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229014	NM_016426.7(GTSE1):c.1142T>C (p.Leu381Pro)	GTSE1 (L381P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720064	NM_016426.7(GTSE1):c.1144C>T (p.Arg382Trp)	GTSE1 (R382W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2544998	NM_016426.7(GTSE1):c.1232C>T (p.Thr411Met)	GTSE1 (T411M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653304	NM_016426.7(GTSE1):c.1233G>A (p.Thr411=)	GTSE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283141	NM_016426.7(GTSE1):c.1241C>G (p.Pro414Arg)	GTSE1 (P414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411013	NM_016426.7(GTSE1):c.1261C>T (p.Pro421Ser)	GTSE1 (P421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478044	NM_016426.7(GTSE1):c.1331A>G (p.Asn444Ser)	GTSE1 (N444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103220	NM_016426.7(GTSE1):c.1378A>T (p.Thr460Ser)	GTSE1 (T460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103221	NM_016426.7(GTSE1):c.1384G>C (p.Val462Leu)	GTSE1 (V462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327130	NM_016426.7(GTSE1):c.1400C>A (p.Thr467Lys)	GTSE1 (T467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594442	NM_016426.7(GTSE1):c.1408T>C (p.Phe470Leu)	GTSE1 (F470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103222	NM_016426.7(GTSE1):c.1418C>T (p.Pro473Leu)	GTSE1 (P473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462988	NM_016426.7(GTSE1):c.1478G>T (p.Arg493Leu)	GTSE1, LOC126863168 (R493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103223	NM_016426.7(GTSE1):c.1481C>T (p.Pro494Leu)	GTSE1, LOC126863168 (P494L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283139	NM_016426.7(GTSE1):c.1490G>T (p.Cys497Phe)	GTSE1, LOC126863168 (C497F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275204	NM_016426.7(GTSE1):c.1490G>A (p.Cys497Tyr)	GTSE1, LOC126863168 (C497Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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