ClinVar for Gene (Select 56666) - 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 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, ADM2 +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	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653365	NM_052839.4(PANX2):c.1506G>C (p.Pro502=)	PANX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622986	NM_052839.4(PANX2):c.823G>A (p.Val275Met)	PANX2 (V275M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619303	NM_052839.4(PANX2):c.670G>A (p.Ala224Thr)	PANX2 (A224T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606250	NM_052839.4(PANX2):c.1895A>G (p.Tyr632Cys)	PANX2 (Y632C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602104	NM_052839.4(PANX2):c.1985T>C (p.Ile662Thr)	PANX2 (S634P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594952	NM_052839.4(PANX2):c.1187C>A (p.Thr396Lys)	PANX2 (T396K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588848	NM_052839.4(PANX2):c.1592C>T (p.Ala531Val)	PANX2 (A531V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2568518	NM_052839.4(PANX2):c.1934C>T (p.Pro645Leu)	PANX2 (P645L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543754	NM_052839.4(PANX2):c.2014G>A (p.Val672Met)	PANX2 (V672M)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534390	NM_052839.4(PANX2):c.899T>C (p.Val300Ala)	PANX2 (V300A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534389	NM_052839.4(PANX2):c.870C>G (p.Ile290Met)	PANX2 (I290M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534388	NM_052839.4(PANX2):c.379G>T (p.Ala127Ser)	PANX2 (A127S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534387	NM_052839.4(PANX2):c.369C>G (p.Phe123Leu)	PANX2 (F123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534384	NM_052839.4(PANX2):c.367T>C (p.Phe123Leu)	PANX2 (F123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534383	NM_052839.4(PANX2):c.1312C>G (p.Pro438Ala)	PANX2 (P438A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534382	NM_052839.4(PANX2):c.1283A>G (p.Lys428Arg)	PANX2 (K428R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534381	NM_052839.4(PANX2):c.1244A>C (p.Asp415Ala)	PANX2 (D415A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512918	NM_052839.4(PANX2):c.1177G>A (p.Ala393Thr)	PANX2 (A393T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493689	NM_052839.4(PANX2):c.1880A>C (p.His627Pro)	PANX2 (H627P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479360	NM_052839.4(PANX2):c.1732C>T (p.Pro578Ser)	PANX2 (P578S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469847	NM_052839.4(PANX2):c.1613C>G (p.Ala538Gly)	PANX2 (A538G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2408225	NM_052839.4(PANX2):c.1619G>A (p.Arg540Gln)	PANX2 (R540Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404035	NM_052839.4(PANX2):c.509A>C (p.Glu170Ala)	PANX2 (E170A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388048	NM_052839.4(PANX2):c.1469A>C (p.Asp490Ala)	PANX2 (D490A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383581	NM_052839.4(PANX2):c.1505C>A (p.Pro502Gln)	PANX2 (P502Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360552	NM_052839.4(PANX2):c.1181C>T (p.Thr394Ile)	PANX2 (T394I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298185	NM_052839.4(PANX2):c.44T>C (p.Leu15Pro)	PANX2 (L15P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283780	NM_052839.4(PANX2):c.1108G>A (p.Glu370Lys)	PANX2 (E370K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269423	NM_052839.4(PANX2):c.907C>T (p.Leu303Phe)	PANX2 (L303F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257907	NM_052839.4(PANX2):c.115G>A (p.Ala39Thr)	PANX2 (A39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246447	NM_052839.4(PANX2):c.1990A>G (p.Thr664Ala)	PANX2 (T664A)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240723	NM_052839.4(PANX2):c.80C>T (p.Pro27Leu)	PANX2 (P27L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234738	NM_052839.4(PANX2):c.1456G>A (p.Gly486Ser)	PANX2 (G486S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214703	NM_052839.4(PANX2):c.1342G>T (p.Ala448Ser)	PANX2 (A448S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212954	NM_052839.4(PANX2):c.1466G>A (p.Gly489Asp)	PANX2 (G489D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208614	NM_052839.4(PANX2):c.1502C>T (p.Pro501Leu)	PANX2 (P501L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206277	NM_052839.4(PANX2):c.1736C>G (p.Ala579Gly)	PANX2 (A579G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	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 1287552	NM_052839.4(PANX2):c.1515T>C (p.Pro505=)	PANX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	SMC1B, TAFA5 +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
Select item 809382	NM_052839.4(PANX2):c.459G>T (p.Glu153Asp)	PANX2 (E153D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 686392	GRCh37/hg19 22q13.33(chr22:50464963-50668571)x1	MLC1, MOV10L1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685951	GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3	ACR, ADM2 +34 more	Copy number gain	not provided	GPathogenic

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