Related gene-specific medical variations for Gene (Select 2632) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685086	GRCh37/hg19 3p12.2(chr3:81531796-81707690)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 2675867	NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)	GBE1 (I424fs)	Insertion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675866	NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)	GBE1 (W455*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675865	NM_000158.4(GBE1):c.1000del (p.Ile334fs)	GBE1 (I334fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675864	NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)	GBE1 (Y251*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675863	NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)	GBE1 (S559fs)	Microsatellite (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675862	NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)	GBE1 (Q426*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675861	NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)	GBE1 (H291fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675860	NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)	GBE1 (Q482fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675859	NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)	GBE1 (Q252fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675858	NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)	GBE1 (W455*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675857	NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)	GBE1 (L285*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675856	NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)	GBE1 (F381fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675855	NM_000158.4(GBE1):c.993-1dup	GBE1	Duplication (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675854	NM_000158.4(GBE1):c.556-2A>G	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675853	NM_000158.4(GBE1):c.1934+1A>G	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675852	NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)	GBE1	Insertion (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675851	NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)	GBE1	Deletion (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675850	NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)	GBE1 (E558*)	Duplication (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675849	NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)	GBE1 (F538V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675848	NM_000158.4(GBE1):c.1935-1C>A	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675846	NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)	GBE1 (Q252*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2442219	NM_000158.4(GBE1):c.*12T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 2432079	NM_000158.4(GBE1):c.493G>T (p.Val165Phe)	GBE1 (V165F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432077	NM_000158.4(GBE1):c.404T>G (p.Leu135Arg)	GBE1 (L135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808015	GRCh37/hg19 3p12.2-12.1(chr3:80726890-83949110)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 1527028	GRCh37/hg19 3p12.2(chr3:81358284-81588171)	GBE1	Copy number loss	not specified	GUncertain significance
Select item 1341146	GRCh37/hg19 3p12.2(chr3:81778755-81853384)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 1214827	NM_000158.4(GBE1):c.143+297_143+298del	GBE1, LOC129937077	Deletion (intron variant)	not provided	GLikely benign
Select item 989809	NM_000158.4(GBE1):c.906G>A (p.Met302Ile)	GBE1 (M302I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 989807	NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)	GBE1 (P405S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 989806	NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)	GBE1 (D406N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 989802	NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)	GBE1 (D699Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 980022	GRCh37/hg19 3p12.2(chr3:81540099-81597277)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 814459	GRCh37/hg19 3p12.2(chr3:81255104-81637659)x4	GBE1	Copy number gain	not provided	GUncertain significance
Select item 809510	NM_000158.4(GBE1):c.1371G>T (p.Met457Ile)	GBE1 (M457I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688091	GRCh37/hg19 3p12.2(chr3:81539653-81596510)x1	GBE1	Copy number loss	not provided	GPathogenic
Select item 687350	GRCh37/hg19 3p12.2(chr3:81615746-82616037)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 685458	GRCh37/hg19 3p12.2(chr3:80252522-83478466)x3	GBE1	Copy number gain	not provided	GUncertain significance
Select item 562789	GRCh37/hg19 3p12.2(chr3:81697485-83389064)x3	GBE1	Copy number gain	not provided	GUncertain significance
Select item 562788	GRCh37/hg19 3p12.2(chr3:81675729-82141036)x3	GBE1	Copy number gain	not provided	GUncertain significance
Select item 562787	GRCh37/hg19 3p12.2(chr3:81586741-81735611)x1	GBE1	Copy number loss	not provided	GUncertain significance
Select item 562786	GRCh37/hg19 3p12.2(chr3:80247482-83468911)x3	GBE1	Copy number gain	not provided	GUncertain significance
Select item 443357	GRCh37/hg19 3p12.2(chr3:80252522-83468911)x3	GBE1	Copy number gain	See cases	GUncertain significance
Select item 255389	NM_000158.4(GBE1):c.429+35T>C	GBE1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255387	NM_000158.4(GBE1):c.1842T>C (p.Ile614=)	GBE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 235808	NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly)	GBE1 (D487G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226157	GRCh37/hg19 3p12.2(chr3:80453558-83463345)	GBE1	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 2787	NM_000158.4:c.430_782del	GBE1	Deletion	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	GPathogenic

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Links from Gene

Items: 49