C4310671[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 732683	NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn)	TBCD (D353N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1686668	NM_005993.4(TBCD):c.1150_1171del	TBCD	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
Select item 393181	NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln)	TBCD (R580Q)	Single nucleotide variant (missense variant)	TBCD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1034235	NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys)	TBCD (E747K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 723059	NM_005993.5(TBCD):c.2566A>G (p.Met856Val)	TBCD (M856V)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2633532	NM_005993.5(TBCD):c.2983del (p.Glu995fs)	TBCD (E968fs +2 more)	Deletion (frameshift variant)	TBCD-related disorder +1 more	GLikely pathogenic
Select item 807701	NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)	TBCD (P1042L)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 587405	NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)	TBCD	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity