"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ROGDI"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646159	NM_024589.3(ROGDI):c.*116C>T	ROGDI	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 807983	NM_024589.3(ROGDI):c.829G>T (p.Val277Leu)	ROGDI (V277L)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GUncertain significance
Select item 624079	NM_024589.3(ROGDI):c.828C>T (p.Ser276=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 530801	NM_024589.3(ROGDI):c.810G>A (p.Gln270=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 319399	NM_024589.3(ROGDI):c.713G>A (p.Arg238His)	ROGDI (R238H)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GBenign/Likely benign
Select item 916428	NM_024589.3(ROGDI):c.705C>A (p.Gly235=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728037	NM_024589.3(ROGDI):c.669G>A (p.Ala223=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 319401	NM_024589.3(ROGDI):c.625C>G (p.Leu209Val)	ROGDI (L209V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319402	NM_024589.3(ROGDI):c.567G>A (p.Leu189=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701279	NM_024589.3(ROGDI):c.533G>A (p.Arg178Gln)	ROGDI (R178Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319403	NM_024589.3(ROGDI):c.532-4G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 319404	NM_024589.3(ROGDI):c.522C>T (p.Ser174=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GBenign/Likely benign
Select item 374424	NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr)	ROGDI (A173T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 835502	NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr)	ROGDI (A172T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888240	NM_024589.3(ROGDI):c.507C>T (p.Pro169=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41465	NM_024589.3(ROGDI):c.507del (p.Glu170fs)	ROGDI (E170fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 416252	NM_024589.3(ROGDI):c.489C>T (p.Pro163=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related condition +2 more	GBenign/Likely benign
Select item 461611	NM_024589.3(ROGDI):c.417C>T (p.Gly139=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GBenign
Select item 461608	NM_024589.3(ROGDI):c.378G>C (p.Leu126=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2646160	NM_024589.3(ROGDI):c.255+22C>T	ROGDI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624638	NM_024589.3(ROGDI):c.187C>T (p.Leu63=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GLikely benign
Select item 1141395	NM_024589.3(ROGDI):c.66G>A (p.Leu22=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GLikely benign
Select item 1599034	NM_024589.3(ROGDI):c.45+19C>G	ROGDI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 23