ClinVar for Gene (Select 79174) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077402	NM_024324.5(CRELD2):c.833T>C (p.Ile278Thr)	CRELD2 (I278T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077401	NM_024324.5(CRELD2):c.769G>A (p.Glu257Lys)	CRELD2 (E257K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077400	NM_024324.5(CRELD2):c.679G>A (p.Ala227Thr)	CRELD2 (A227T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077399	NM_024324.5(CRELD2):c.632A>G (p.Asn211Ser)	CRELD2 (N211S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077398	NM_024324.5(CRELD2):c.620C>T (p.Ser207Leu)	CRELD2 (S207L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077397	NM_024324.5(CRELD2):c.593-241T>C	CRELD2 (W223R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077396	NM_024324.5(CRELD2):c.582C>A (p.Ser194Arg)	CRELD2 (S194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077395	NM_024324.5(CRELD2):c.569A>G (p.Asn190Ser)	CRELD2 (N190S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077393	NM_024324.5(CRELD2):c.566G>A (p.Arg189Gln)	CRELD2 (R189Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077392	NM_024324.5(CRELD2):c.448G>A (p.Gly150Arg)	CRELD2 (G150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077390	NM_024324.5(CRELD2):c.112G>C (p.Val38Leu)	CRELD2 (V38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077389	NM_024324.5(CRELD2):c.863G>A (p.Cys288Tyr)	CRELD2 (C288Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 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 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 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 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, BRD1 +35 more	Copy number loss	not provided	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 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 more	Copy number gain	not provided	GUncertain significance
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	ATXN10, CELSR1 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653355	NM_024324.5(CRELD2):c.747C>T (p.Asn249=)	CRELD2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653354	NM_024324.5(CRELD2):c.621G>A (p.Ser207=)	CRELD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624322	NM_024324.5(CRELD2):c.1056C>A (p.Asp352Glu)	CRELD2 (D352E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602531	NM_024324.5(CRELD2):c.652G>A (p.Glu218Lys)	CRELD2 (E218K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595519	NM_024324.5(CRELD2):c.742A>G (p.Lys248Glu)	CRELD2 (K297E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2561200	NM_024324.5(CRELD2):c.13C>T (p.Arg5Cys)	CRELD2, LOC130067776 (R5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553249	NM_024324.5(CRELD2):c.354G>T (p.Trp118Cys)	CRELD2 (W118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542236	NM_024324.5(CRELD2):c.97C>G (p.Arg33Gly)	CRELD2 (R33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536871	NM_024324.5(CRELD2):c.691G>A (p.Val231Met)	CRELD2 (V231M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475960	NM_024324.5(CRELD2):c.214G>A (p.Glu72Lys)	CRELD2 (E72K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474938	NM_024324.5(CRELD2):c.400G>T (p.Gly134Cys)	CRELD2 (G134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459029	NM_024324.5(CRELD2):c.593-181G>T	CRELD2 (A243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	CPT1B, ADM2 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	MLC1, MOV10L1 +31 more	Deletion	not provided	GPathogenic
Select item 2398510	NM_024324.5(CRELD2):c.916G>A (p.Glu306Lys)	CRELD2, LOC130067777 (E274K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380418	NM_024324.5(CRELD2):c.98G>A (p.Arg33Gln)	CRELD2 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378473	NM_024324.5(CRELD2):c.593-294C>G	CRELD2 (S205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377103	NM_024324.5(CRELD2):c.400G>A (p.Gly134Ser)	CRELD2 (G134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369509	NM_024324.5(CRELD2):c.593-222C>T	CRELD2 (T229M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347282	NM_024324.5(CRELD2):c.65C>T (p.Pro22Leu)	CRELD2, LOC130067776 (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308340	NM_024324.5(CRELD2):c.430T>C (p.Ser144Pro)	CRELD2 (S144P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296459	NM_024324.5(CRELD2):c.764C>T (p.Thr255Met)	CRELD2 (T255M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275730	NM_024324.5(CRELD2):c.593-244G>A	CRELD2 (A222T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264416	NM_024324.5(CRELD2):c.944A>G (p.Tyr315Cys)	CRELD2, LOC130067777 (Y287C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260328	NM_024324.5(CRELD2):c.763A>G (p.Thr255Ala)	CRELD2 (T304A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238539	NM_024324.5(CRELD2):c.1019A>T (p.Glu340Val)	CRELD2 (E389V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235195	NM_024324.5(CRELD2):c.1028G>A (p.Ser343Asn)	CRELD2 (S343N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225925	NM_024324.5(CRELD2):c.275A>G (p.Gln92Arg)	CRELD2 (Q92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215483	NM_024324.5(CRELD2):c.593-208G>T	CRELD2 (G234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209333	NM_024324.5(CRELD2):c.773A>C (p.Glu258Ala)	CRELD2 (E230A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207533	NM_024324.5(CRELD2):c.40C>T (p.Leu14Phe)	CRELD2, LOC130067776 (L14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207316	NM_024324.5(CRELD2):c.276G>C (p.Gln92His)	CRELD2 (Q92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1526746	GRCh37/hg19 22q13.33(chr22:49976054-50346635)	ALG12, BRD1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526745	GRCh37/hg19 22q13.33(chr22:49729747-51197838)	ACR, ADM2 +33 more	Copy number loss	not specified	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 1441357	NC_000022.10:g.(?_50167881)_(51066207_?)dup	TRABD, TTLL8 +31 more	Duplication	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1340060	GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	ACR, ADM2 +35 more	Copy number loss	not provided	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 1328447	GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1180542	GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1	ALG12, ARSA +33 more	Copy number loss	not provided	GPathogenic
Select item 1071720	NC_000022.10:g.(?_50297466)_(51066227_?)del	ADM2, ALG12 +29 more	Deletion	ALG12-congenital disorder of glycosylation	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 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 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 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 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 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 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 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 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 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816571	GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 816570	GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3	ADM2, ALG12 +33 more	Copy number gain	not provided	GPathogenic
Select item 816569	GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	ZBED4, BRD1 +34 more	Copy number loss	not provided	GPathogenic
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 816237	GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3	PPP6R2, SBF1 +33 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic

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