CENPP[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2339753	NM_001012267.3(CENPP):c.146G>T (p.Gly49Val)	CENPP (G49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391297	NM_001012267.3(CENPP):c.162A>T (p.Lys54Asn)	CENPP (K54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043563	NM_001012267.3(CENPP):c.215C>T (p.Thr72Met)	CENPP (T72M)	Single nucleotide variant (missense variant +1 more)	CENPP-related disorder	GLikely benign
Select item 3142415	NM_001012267.3(CENPP):c.410A>T (p.Asp137Val)	CENPP (D25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319108	NM_001012267.3(CENPP):c.418A>G (p.Ile140Val)	CENPP (I28V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337941	NM_001012267.3(CENPP):c.475G>C (p.Glu159Gln)	CENPP (E47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048561	NM_001012267.3(CENPP):c.503G>A (p.Arg168Gln)	CENPP (R168Q +1 more)	Single nucleotide variant (missense variant)	CENPP-related disorder	GLikely benign
Select item 2555125	NM_001012267.3(CENPP):c.552T>G (p.Phe184Leu)	CENPP (F72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408691	NM_001012267.3(CENPP):c.583G>A (p.Val195Met)	CENPP (V22M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517113	NM_001012267.3(CENPP):c.630C>A (p.Ser210Arg)	CENPP (S98R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313752	NM_001012267.3(CENPP):c.631G>A (p.Ala211Thr)	CENPP (A211T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053542	NM_001012267.3(CENPP):c.637C>T (p.Arg213Trp)	CENPP (R101W +2 more)	Single nucleotide variant (missense variant)	CENPP-related disorder	GLikely benign
Select item 2608328	NM_001012267.3(CENPP):c.723A>C (p.Lys241Asn)	CENPP (K129N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142416	NM_001012267.3(CENPP):c.769A>G (p.Thr257Ala)	CENPP (T145A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261231	NM_001012267.3(CENPP):c.773C>G (p.Ala258Gly)	CENPP (A146G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684593	NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter)	CENPP (C110* +2 more)	Single nucleotide variant (nonsense)	Low-frequency hearing loss +1 more	GLikely pathogenic