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

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Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 347913	NM_000824.5(GLRB):c.-26G>T	GLRB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 347914	NM_000824.5(GLRB):c.-16A>T	GLRB	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 2 +1 more	GBenign
Select item 901768	NM_000824.5(GLRB):c.92A>G (p.Lys31Arg)	GLRB (K31R)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 347915	NM_000824.5(GLRB):c.122+4T>A	GLRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1242317	NM_000824.5(GLRB):c.122+230T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242694	NM_000824.5(GLRB):c.123-118dup	GLRB	Duplication (intron variant)	not provided	GBenign
Select item 1248230	NM_000824.5(GLRB):c.123-117G>A	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248544	NM_000824.5(GLRB):c.229+82G>A	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230558	NM_000824.5(GLRB):c.229+138T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236550	NM_000824.5(GLRB):c.229+154A>G	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241181	NM_000824.5(GLRB):c.230-199del	GLRB	Deletion (intron variant)	not provided	GBenign
Select item 1242479	NM_000824.5(GLRB):c.230-198C>T	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297932	NM_000824.5(GLRB):c.230-165C>T	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347917	NM_000824.5(GLRB):c.297+10C>T	GLRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231846	NM_000824.5(GLRB):c.297+71T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249921	NM_000824.5(GLRB):c.297+86C>T	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16059	NM_000824.5(GLRB):c.610+5G>A	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1225920	NM_000824.5(GLRB):c.611-66A>G	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286024	NM_000824.5(GLRB):c.751+178del	GLRB	Deletion (intron variant)	not provided	GBenign
Select item 347923	NM_000824.5(GLRB):c.904+4A>T	GLRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 347924	NM_000824.5(GLRB):c.948T>C (p.Leu316=)	GLRB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1258226	NM_000824.5(GLRB):c.1197+196G>A	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328711	NM_000824.5(GLRB):c.1478G>A (p.Trp493Ter)	GLRB (W493*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 347932	NM_000824.5(GLRB):c.*160G>A	GLRB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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

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Items: 27