"Ambry Genetics"[submitter] AND "TVP23B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2589704	NM_016078.6(TVP23B):c.65C>T (p.Thr22Met)	TVP23B (T22M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217350	NM_016078.6(TVP23B):c.124T>C (p.Phe42Leu)	TVP23B (F42L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303544	NM_016078.6(TVP23B):c.403C>T (p.Pro135Ser)	TVP23B (P135S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208932	NM_016078.6(TVP23B):c.433G>A (p.Ala145Thr)	TVP23B (A81T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301149	NM_016078.6(TVP23B):c.437T>C (p.Leu146Pro)	TVP23B (L60P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375948	NM_016078.6(TVP23B):c.463G>T (p.Ala155Ser)	TVP23B (A155S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481522	NM_016078.6(TVP23B):c.494G>T (p.Gly165Val)	TVP23B (G101V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362890	NM_016078.6(TVP23B):c.550A>G (p.Ser184Gly)	TVP23B (S98G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487938	NM_016078.6(TVP23B):c.599G>C (p.Gly200Ala)	TVP23B (G114A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance