C0432246[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436172	NM_006031.6(PCNT):c.139G>C (p.Asp47His)	PCNT, LOC128092249 (D47H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
Select item 211852	NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)	PCNT (K107N)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 159598	NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)	PCNT (R143C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 429553	NM_006031.6(PCNT):c.934C>T (p.Arg312Trp)	PCNT (R312W +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 197781	NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)	PCNT (R320K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 211843	NM_006031.6(PCNT):c.1457-5T>A	PCNT	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 385865	NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)	PCNT (R507G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 897229	NM_006031.6(PCNT):c.1542C>T (p.Ser514=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign/Likely benign
Select item 159576	NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)	PCNT (L904F +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159582	NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)	PCNT (R1074W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1507500	NM_006031.6(PCNT):c.3228G>T (p.Gln1076His)	PCNT (Q1076H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 436262	NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)	PCNT (V1148A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 159591	NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)	PCNT (A1194V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 225019	NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)	PCNT (L1082fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 436192	NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)	PCNT (R1360C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 195605	NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)	PCNT (R1370Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 898542	NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)	PCNT (R1290W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159602	NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)	PCNT (G1452R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +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 +1 more	GConflicting classifications of pathogenicity
Select item 159614	NM_006031.6(PCNT):c.4962+10G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 287397	NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)	PCNT (A1952V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284339	NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)	PCNT (P1992L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436269	NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)	PCNT (D2065E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 159636	NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 895762	NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp)	PCNT (G2198D +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159637	NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)	PCNT (T2206A +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 1338717	NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)	PCNT (A2231P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 196786	NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu)	PCNT (P2379L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 436214	NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys)	PCNT (R2400C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 436216	NM_006031.6(PCNT):c.7304A>G (p.His2435Arg)	PCNT (H2435R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 436217	NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg)	PCNT (G2437R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1402044	NM_006031.6(PCNT):c.7689G>T (p.Gln2563His)	PCNT (Q2445H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 378330	NM_006031.6(PCNT):c.8065-19G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 1337232	NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 159678	NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)	PCNT (R2958H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159681	NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)	PCNT (R2973* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GPathogenic
Select item 159682	NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)	PCNT (L2975P +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 159684	NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)	PCNT (R2987W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159688	NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign

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Items: 40