"GeneDx"[submitter] AND "FXYD6-FXYD2"[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 1243897	NM_001680.5(FXYD2):c.*7-58G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272007	NM_001680.5(FXYD2):c.*7-61G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317355	NM_001680.5(FXYD2):c.*6+118G>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248580	NM_001680.5(FXYD2):c.*6+29G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302520	NM_001680.5(FXYD2):c.*6+6C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 302521	NM_001680.5(FXYD2):c.*1C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2 +1 more	GBenign
Select item 1236914	NM_001680.5(FXYD2):c.140-164A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249364	NM_001680.5(FXYD2):c.139+279A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272741	NM_001680.5(FXYD2):c.139+85T>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302524	NM_001680.5(FXYD2):c.76G>A (p.Val26Ile)	FXYD2, FXYD6-FXYD2 (V24I +2 more)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 1251788	NM_001680.5(FXYD2):c.65-60A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318333	NM_001680.5(FXYD2):c.65-63C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 302525	NM_001680.5(FXYD2):c.45C>T (p.Asp15=)	FXYD2, FXYD6-FXYD2 (R98C)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1316554	NM_001680.5(FXYD2):c.26-150G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223822	NM_001680.5(FXYD2):c.25+29G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302527	NM_001680.5(FXYD2):c.-10A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (5 prime UTR variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign
Select item 368933	NM_021603.4(FXYD2):c.20-2040C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278795	NM_021603.4(FXYD2):c.20-2233A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234065	NM_021603.4(FXYD2):c.19+227T>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317538	NM_021603.4(FXYD2):c.19+80A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706802	NM_021603.4(FXYD2):c.19+60C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229852	NM_021603.4(FXYD2):c.-34C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 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: 25