"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138618	NM_006031.6(PCNT):c.54+6C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 211862	NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	PCNT	Duplication (inframe_insertion)	PCNT-related condition +3 more	GBenign/Likely benign
Select item 138613	NM_006031.6(PCNT):c.520A>G (p.Ile174Val)	PCNT (I174V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138615	NM_006031.6(PCNT):c.711T>G (p.His237Gln)	PCNT (H237Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 340465	NM_006031.6(PCNT):c.904G>A (p.Glu302Lys)	PCNT (E302K +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign
Select item 281569	NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)	PCNT (K678R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1205985	NM_006031.6(PCNT):c.2308A>G (p.Met770Val)	PCNT (M652V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 284081	NM_006031.6(PCNT):c.2610-8T>C	PCNT	Single nucleotide variant (intron variant)	PCNT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 159590	NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)	PCNT (A1194T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1206049	NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)	PCNT (R1252W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159601	NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)	PCNT (Q1449E +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GBenign/Likely benign
Select item 159605	NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)	PCNT (P1524R +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GBenign/Likely benign
Select item 499448	NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)	PCNT (M1559L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159612	NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)	PCNT (P1637L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 95339	NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)	PCNT (A1924V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 436204	NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)	PCNT (R1939W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 95340	NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)	PCNT (R1953H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159626	NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)	PCNT (R1960Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 211869	NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)	PCNT (Q2027R +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GBenign/Likely benign
Select item 159634	NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)	PCNT (S2191P +1 more)	Single nucleotide variant (missense variant)	not specified +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 138631	NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)	PCNT (P2377L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159650	NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)	PCNT (V2387M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 159657	NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)	PCNT (Q2468H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 211882	NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)	PCNT (L2487V +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 138605	NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)	PCNT (A2551V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 138607	NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln)	PCNT (R2625Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159669	NM_006031.6(PCNT):c.7914-4G>A	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 138610	NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)	PCNT (R2753H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 138611	NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)	PCNT (A2891T)	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 809312	NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)	PCNT (P2901L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 95342	NM_006031.6(PCNT):c.8752-5A>C	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159686	NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)	PCNT (T3005M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 159690	NM_006031.6(PCNT):c.9274-3C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 197527	NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)	PCNT (R3236Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GConflicting classifications of pathogenicity

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Items: 37