5236[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 510436	NM_002633.3(PGM1):c.-49C>G	LOC129930668, PGM1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 668472	NM_002633.3(PGM1):c.-41G>A	LOC129930668, PGM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 874602	NM_002633.3(PGM1):c.-39C>G	LOC129930668, PGM1	Single nucleotide variant (5 prime UTR variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1932812	NM_002633.3(PGM1):c.5T>G (p.Val2Gly)	LOC129930668, PGM1 (V2G)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 704066	NM_002633.3(PGM1):c.12C>A (p.Ile4=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 384571	NM_002633.3(PGM1):c.18A>G (p.Thr6=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2236593	NM_002633.3(PGM1):c.23A>G (p.Lys8Arg)	LOC129930668, PGM1 (K8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2741013	NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)	LOC129930668, PGM1 (K8N)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1694516	NM_002633.3(PGM1):c.28_37del (p.Gln10fs)	LOC129930668, PGM1 (Q10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2082775	NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)	LOC129930668, PGM1 (Q13P)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2035925	NM_002633.3(PGM1):c.42C>T (p.Asp14=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1972730	NM_002633.3(PGM1):c.48G>A (p.Lys16=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2821223	NM_002633.3(PGM1):c.51G>C (p.Pro17=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2476057	NM_002633.3(PGM1):c.56C>G (p.Thr19Arg)	LOC129930668, PGM1 (T19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739086	NM_002633.3(PGM1):c.57G>A (p.Thr19=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2163043	NM_002633.3(PGM1):c.60C>T (p.Ser20=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 511633	NM_002633.3(PGM1):c.64C>T (p.Leu22=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 806150	NM_002633.3(PGM1):c.74G>A (p.Arg25Gln)	LOC129930668, PGM1 (R25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416374	NM_002633.3(PGM1):c.76G>A (p.Val26Met)	LOC129930668, PGM1 (V26M)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2581183	NM_002633.3(PGM1):c.87_94del (p.Phe29fs)	LOC129930668, PGM1 (F29fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 663105	NM_002633.3(PGM1):c.87_88del (p.Phe29fs)	LOC129930668, PGM1 (F29fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2809146	NM_002633.3(PGM1):c.90G>A (p.Gln30=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1433470	NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)	LOC129930668, PGM1 (S31G)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1911641	NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)	LOC129930668, PGM1 (A33P)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 382980	NM_002633.3(PGM1):c.99C>T (p.Ala33=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2108026	NM_002633.3(PGM1):c.105C>T (p.Tyr35=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 631612	NM_002633.3(PGM1):c.105C>A (p.Tyr35Ter)	PGM1, LOC129930668 (Y35*)	Single nucleotide variant (nonsense)	PGM1-Related Disorders	GUncertain significance
Select item 1948608	NM_002633.3(PGM1):c.107C>T (p.Ala36Val)	LOC129930668, PGM1 (A36V)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 874603	NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)	LOC129930668, PGM1 (A36E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2920589	NM_002633.3(PGM1):c.108G>A (p.Ala36=)	PGM1, LOC129930668	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 133287	NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)	LOC129930668, PGM1 (N38Y)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2151877	NM_002633.3(PGM1):c.119del (p.Ile40fs)	LOC129930668, PGM1 (I40fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2069140	NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)	LOC129930668, PGM1 (I40T)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2180211	NM_002633.3(PGM1):c.120C>G (p.Ile40Met)	LOC129930668, PGM1 (I40M)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 501053	NM_002633.3(PGM1):c.122A>G (p.Gln41Arg)	LOC129930668, PGM1 (Q41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897490	NM_002633.3(PGM1):c.123G>A (p.Gln41=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1423448	NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)	LOC129930668, PGM1 (S42N)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1991831	NM_002633.3(PGM1):c.129C>T (p.Ile43=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2171325	NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)	LOC129930668, PGM1 (S45F)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 937395	NM_002633.3(PGM1):c.138C>A (p.Thr46=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2603424	NM_002633.3(PGM1):c.143A>G (p.Glu48Gly)	LOC129930668, PGM1 (E48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010104	NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)	LOC129930668, PGM1 (Q51R)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1366132	NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)	LOC129930668, PGM1 (R52Q)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2887266	NM_002633.3(PGM1):c.156G>C (p.Arg52=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 965085	NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)	LOC129930668, PGM1 (Q53fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 2389740	NM_002633.3(PGM1):c.158A>G (p.Gln53Arg)	LOC129930668, PGM1 (Q53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745911	NM_002633.3(PGM1):c.159G>A (p.Gln53=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 874604	NM_002633.3(PGM1):c.160G>A (p.Glu54Lys)	LOC129930668, PGM1 (E54K)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2054172	NM_002633.3(PGM1):c.168G>C (p.Thr56=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1804740	NM_002633.3(PGM1):c.170T>C (p.Leu57Pro)	LOC129930668, PGM1 (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1951567	NM_002633.3(PGM1):c.171G>A (p.Leu57=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 950179	NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)	LOC129930668, PGM1 (G60R)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2729626	NM_002633.3(PGM1):c.180C>T (p.Gly60=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-related condition +1 more	GLikely benign
Select item 133288	NM_002633.3(PGM1):c.184G>C (p.Asp62His)	PGM1, LOC129930668 (D62H)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1016026	NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)	LOC129930668, PGM1 (G63C)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2287194	NM_002633.3(PGM1):c.191G>A (p.Arg64Gln)	LOC129930668, PGM1 (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385170	NM_002633.3(PGM1):c.199A>G (p.Met67Val)	LOC129930668, PGM1 (M67V)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 499575	NM_002633.3(PGM1):c.200T>G (p.Met67Arg)	PGM1 (M67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935814	NM_002633.3(PGM1):c.203A>T (p.Lys68Met)	PGM1 (K68M)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2508485	NM_002633.3(PGM1):c.209C>T (p.Ala70Val)	PGM1 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401026	NM_002633.3(PGM1):c.216G>C (p.Gln72His)	PGM1 (Q72H)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 731913	NM_002633.3(PGM1):c.216G>A (p.Gln72=)	PGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155662	NM_002633.3(PGM1):c.243C>T (p.Asn81=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2304561	NM_002633.3(PGM1):c.244G>A (p.Gly82Arg)	LOC129930669, PGM1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874605	NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)	LOC129930669, PGM1 (G82W)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2160644	NM_002633.3(PGM1):c.246G>A (p.Gly82=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2077737	NM_002633.3(PGM1):c.246+8A>G	LOC129930669, PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 1914919	NM_002633.3(PGM1):c.246+11C>T	LOC129930669, PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2140956	NM_002633.3(PGM1):c.246+20_246+21delinsAA	PGM1, LOC129930669	Indel (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 1259045	NM_002633.3(PGM1):c.246+67C>T	LOC129930669, PGM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1216633	NM_002633.3(PGM1):c.246+88C>T	PGM1, LOC129930669	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204360	NM_002633.3(PGM1):c.246+197C>T	LOC129930669, PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 676174	NM_002633.3(PGM1):c.246+239C>G	LOC129930669, PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1189881	NM_002633.3(PGM1):c.246+312C>T	PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211896	NM_002633.3(PGM1):c.246+320G>C	PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1269422	NM_002633.3(PGM1):c.246+458T>A	PGM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327253	NM_002633.3(PGM1):c.246+515T>C	PGM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261317	NM_002633.3(PGM1):c.246+547del	PGM1	Deletion (intron variant)	not provided	GBenign
Select item 672472	NM_002633.3(PGM1):c.247-6445A>G	PGM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271146	NM_002633.3(PGM1):c.247-6436G>A	PGM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208878	NM_002633.3(PGM1):c.247-6400T>A	PGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676253	NM_002633.3(PGM1):c.247-6087T>G	PGM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3041713	NM_002633.3(PGM1):c.247-5929T>C	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-related condition	GLikely benign
Select item 3025824	NM_002633.3(PGM1):c.247-5872C>T	PGM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 489030	NM_002633.3(PGM1):c.247-5810G>A	PGM1 (C52Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501054	NM_002633.3(PGM1):c.247-5801A>G	PGM1 (E55G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1083445	NM_002633.3(PGM1):c.247-5696A>T	PGM1 (E90V)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 445924	NM_002633.3(PGM1):c.247-5664G>A	PGM1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 671165	NM_002633.3(PGM1):c.247-316G>A	PGM1	Single nucleotide variant (intron variant)	not provided	GBenign

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