"Ambry Genetics"[submitter] AND "ODF2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254085	NM_001351578.2(ODF2):c.131G>A (p.Arg44Lys)	ODF2 (R44K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241560	NM_001351578.2(ODF2):c.197G>A (p.Ser66Asn)	ODF2 (S22N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374519	NM_001351578.2(ODF2):c.203C>T (p.Thr68Met)	ODF2 (T24M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342461	NM_001351578.2(ODF2):c.235G>A (p.Ala79Thr)	ODF2 (A79T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510878	NM_001351578.2(ODF2):c.419G>A (p.Arg140Gln)	ODF2 (R52Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348794	NM_001351578.2(ODF2):c.427C>T (p.Arg143Trp)	ODF2 (R104W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342787	NM_001351578.2(ODF2):c.524C>T (p.Thr175Met)	ODF2-AS1, ODF2 (T117M +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405285	NM_001351578.2(ODF2):c.627G>T (p.Lys209Asn)	ODF2, ODF2-AS1 (K102N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282087	NM_001351578.2(ODF2):c.647C>T (p.Ala216Val)	ODF2, ODF2-AS1 (A109V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292816	NM_001351578.2(ODF2):c.779C>T (p.Thr260Met)	ODF2, ODF2-AS1 (T153M +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309613	NM_001351578.2(ODF2):c.799G>A (p.Glu267Lys)	ODF2-AS1, ODF2 (E103K +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357306	NM_001351578.2(ODF2):c.803G>T (p.Arg268Leu)	ODF2, ODF2-AS1 (R104L +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620470	NM_001351578.2(ODF2):c.865T>C (p.Cys289Arg)	ODF2, ODF2-AS1 (C182R +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290902	NM_001351578.2(ODF2):c.890C>T (p.Ala297Val)	ODF2, ODF2-AS1 (A133V +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369068	NM_001351578.2(ODF2):c.959C>T (p.Thr320Ile)	ODF2 (T218I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455238	NM_001351578.2(ODF2):c.988A>C (p.Asn330His)	ODF2 (N185H +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259889	NM_001351578.2(ODF2):c.1054A>T (p.Thr352Ser)	ODF2 (T188S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610414	NM_001351578.2(ODF2):c.1061G>A (p.Arg354Gln)	ODF2 (R354Q +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273939	NM_001351578.2(ODF2):c.1160A>G (p.Lys387Arg)	ODF2 (K343R +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589099	NM_001351578.2(ODF2):c.1368C>A (p.Ser456Arg)	ODF2 (S311R +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560089	NM_001351578.2(ODF2):c.1657A>G (p.Thr553Ala)	ODF2 (T408A +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244820	NM_001351578.2(ODF2):c.2419A>G (p.Arg807Gly)	ODF2 (R662G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743428	NM_001351578.2(ODF2):c.2662G>A (p.Ala888Thr)	ODF2 (A844T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 23