"GeneDx"[submitter] AND "GLRX5"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 673746	NM_016417.2(GLRX5):c.-277T>A	GLRX5, SNHG10	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1250550	NC_000014.9:g.95534834G>A	GLRX5, SNHG10	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1175454	NC_000014.9:g.95534887A>C	GLRX5	Single nucleotide variant	not provided	GLikely benign
Select item 379973	NM_016417.2(GLRX5):c.-44A>C	GLRX5	Single nucleotide variant	not specified +1 more	GBenign
Select item 381201	NM_016417.3(GLRX5):c.-17C>A	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 389476	NM_016417.3(GLRX5):c.-16C>T	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390407	NM_016417.3(GLRX5):c.-9C>T	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2662649	NM_016417.3(GLRX5):c.-6G>A	GLRX5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 392388	NM_016417.3(GLRX5):c.81G>C (p.Pro27=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3375615	NM_016417.3(GLRX5):c.109G>A (p.Gly37Ser)	GLRX5 (G37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382968	NM_016417.3(GLRX5):c.198G>A (p.Gln66=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 382277	NM_016417.3(GLRX5):c.204C>T (p.Gly68=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 382969	NM_016417.3(GLRX5):c.240C>T (p.His80=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2513149	NM_016417.3(GLRX5):c.242G>A (p.Gly81Asp)	GLRX5 (G81D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 672600	NM_016417.3(GLRX5):c.295+230C>T	GLRX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684015	NM_016417.3(GLRX5):c.295+311A>G	GLRX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252671	NM_016417.3(GLRX5):c.296-271_296-270dup	GLRX5	Duplication (intron variant)	not provided	GBenign
Select item 1227874	NM_016417.3(GLRX5):c.296-270dup	GLRX5	Duplication (intron variant)	not provided	GBenign
Select item 1186508	NM_016417.3(GLRX5):c.296-272_296-270dup	GLRX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1326504	NM_016417.3(GLRX5):c.296-81A>G	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681589	NM_016417.3(GLRX5):c.306C>T (p.Asp102=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1029602	NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)	GLRX5 (N105S)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3 +1 more	GUncertain significance
Select item 3365942	NM_016417.3(GLRX5):c.407A>G (p.Glu136Gly)	GLRX5 (E136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380169	NM_016417.3(GLRX5):c.435C>T (p.Ser145=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 379974	NM_016417.3(GLRX5):c.436G>A (p.Ala146Thr)	GLRX5 (A146T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1200616	NM_016417.3(GLRX5):c.*4C>T	GLRX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 382108	NM_016417.3(GLRX5):c.*5G>A	GLRX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1179843	NM_016417.3(GLRX5):c.*16C>T	GLRX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1294369	NM_016417.3(GLRX5):c.*127G>A	GLRX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188760	NM_016417.3(GLRX5):c.*192T>C	GLRX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 32