"GeneDx"[submitter] AND "GATB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 1261015	NM_004564.3(GATB):c.*135A>G	GATB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1256843	NM_004564.3(GATB):c.1546-23GTAA[3]	GATB	Microsatellite (intron variant)	not provided	GBenign
Select item 1183896	NM_004564.3(GATB):c.1332-103A>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236376	NM_004564.3(GATB):c.1331+226G>T	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179746	NM_004564.3(GATB):c.1331+88T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248000	NM_004564.3(GATB):c.1331+82T>G	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287980	NM_004564.3(GATB):c.1329G>A (p.Glu443=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252303	NM_004564.3(GATB):c.1198-6del	GATB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1273897	NM_004564.3(GATB):c.1198-84_1198-83insT	GATB	Insertion (intron variant)	not provided	GBenign
Select item 1287289	NM_004564.3(GATB):c.1198-202A>G	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259641	NM_004564.3(GATB):c.1007+31T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231494	NM_004564.3(GATB):c.963-201dup	GATB	Duplication (intron variant)	not provided	GBenign
Select item 1182021	NM_004564.3(GATB):c.963-186del	GATB	Deletion (intron variant)	not provided	GBenign
Select item 1261081	NM_004564.3(GATB):c.878-95del	GATB	Deletion (intron variant)	not provided	GBenign
Select item 1272889	NM_004564.3(GATB):c.696G>A (p.Ala232=)	GATB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239982	NM_004564.3(GATB):c.441+190G>A	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225754	NM_004564.3(GATB):c.327+202T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249254	NM_004564.3(GATB):c.327+108T>C	GATB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274372	NM_004564.3(GATB):c.176+7T>C	GATB, LOC129993225	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 41 +1 more	GBenign
Select item 1280003	NM_004564.3(GATB):c.89C>A (p.Ala30Asp)	GATB, LOC129993225 (A30D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1233639	NC_000004.12:g.151761245G>A	GATB	Single nucleotide variant	not provided	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24