"Illumina Laboratory Services, Illumina"[submitter] AND "FXYD6-FXYD2"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302513	NM_001680.5(FXYD2):c.*215G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302514	NM_001680.5(FXYD2):c.*188C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal Hypomagnesemia, Dominant	GUncertain significance
Select item 302515	NM_001680.5(FXYD2):c.*176T>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 878676	NM_001680.5(FXYD2):c.*149A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GUncertain significance
Select item 302516	NM_001680.5(FXYD2):c.*124T>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GUncertain significance
Select item 302517	NM_001680.5(FXYD2):c.*105C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302518	NM_001680.5(FXYD2):c.*78C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302519	NM_001680.5(FXYD2):c.*71G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302520	NM_001680.5(FXYD2):c.*6+6C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided +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)	not provided +1 more	GBenign
Select item 724848	NM_001680.5(FXYD2):c.198G>T (p.Pro66=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 302522	NM_001680.5(FXYD2):c.195G>A (p.Glu65=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302523	NM_001680.5(FXYD2):c.183C>T (p.Ile61=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 719221	NM_001680.5(FXYD2):c.126C>T (p.Leu42=)	FXYD6-FXYD2, FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 879279	NM_001680.5(FXYD2):c.90C>T (p.Gly30=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 302525	NM_001680.5(FXYD2):c.45C>T (p.Asp15=)	FXYD6-FXYD2, FXYD2 (R98C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 880461	NM_001680.5(FXYD2):c.36C>G (p.Pro12=)	FXYD2, FXYD6-FXYD2 (Q95E)	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2	GUncertain significance
Select item 302526	NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)	FXYD6-FXYD2, FXYD2 (G10S +3 more)	Single nucleotide variant (missense variant)	FXYD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 302527	NM_001680.5(FXYD2):c.-10A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 368933	NM_021603.4(FXYD2):c.20-2040C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	Renal Hypomagnesemia, Dominant +1 more	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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Items: 22