"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518323	NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)	PCNT (G136S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211862	NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	PCNT	Duplication (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 159609	NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)	PCNT	Deletion (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 897152	NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)	PCNT (Q178P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898319	NM_006031.6(PCNT):c.623G>A (p.Arg208His)	PCNT (R208H +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 95341	NM_006031.6(PCNT):c.720+17T>C	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159653	NM_006031.6(PCNT):c.721-7G>A	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 385865	NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)	PCNT (R507G +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GLikely benign
Select item 159566	NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159569	NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)	PCNT (G704E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159572	NM_006031.6(PCNT):c.2556T>C (p.Ala852=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 159574	NM_006031.6(PCNT):c.2610-5C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1174802	NM_006031.6(PCNT):c.2818dup (p.Ala940fs)	PCNT (A822fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 159579	NM_006031.6(PCNT):c.2928C>G (p.Leu976=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159581	NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)	PCNT (V1038A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159585	NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159601	NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)	PCNT (Q1449E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 138623	NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159642	NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)	PCNT (P2274L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159645	NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA	PCNT	Insertion (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GBenign
Select item 159668	NM_006031.6(PCNT):c.7914-16C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159670	NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)	PCNT (Q2659H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159671	NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)	PCNT (Q2792R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +3 more	GBenign
Select item 95342	NM_006031.6(PCNT):c.8752-5A>C	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159697	NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)	PCNT (R3245S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

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Items: 25