"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1280 - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2767584	NM_006031.6(PCNT):c.55-19T>A	LOC128092249, PCNT (L24*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2873056	NM_006031.6(PCNT):c.55-18A>G	LOC128092249, PCNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969302	NM_006031.6(PCNT):c.55-17del	LOC128092249, PCNT (S25fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2876449	NM_006031.6(PCNT):c.55-17T>A	LOC128092249, PCNT (S25T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2829463	NM_006031.6(PCNT):c.55-15T>C	LOC128092249, PCNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977281	NM_006031.6(PCNT):c.55-14A>G	LOC128092249, PCNT (T26A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2788694	NM_006031.6(PCNT):c.55-13C>T	LOC128092249, PCNT (T26I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2834496	NM_006031.6(PCNT):c.55-7T>G	LOC128092249, PCNT (L28W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 159620	NM_006031.6(PCNT):c.55-5C>T	LOC128092249, PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 2962500	NM_006031.6(PCNT):c.55-4G>A	LOC128092249, PCNT (R29H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2832564	NM_006031.6(PCNT):c.63C>T (p.His21=)	LOC128092249, PCNT (T33I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 895263	NM_006031.6(PCNT):c.71A>G (p.Gln24Arg)	LOC128092249, PCNT (Q24R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 725654	NM_006031.6(PCNT):c.90C>T (p.Asp30=)	LOC128092249, PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1512520	NM_006031.6(PCNT):c.91A>G (p.Ser31Gly)	LOC128092249, PCNT (S31G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3020298	NM_006031.6(PCNT):c.96G>T (p.Ser32=)	LOC128092249, PCNT (R44L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1978126	NM_006031.6(PCNT):c.102G>C (p.Ser34=)	LOC128092249, PCNT (R46P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2958761	NM_006031.6(PCNT):c.114G>A (p.Thr38=)	LOC128092249, PCNT (R50Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2874541	NM_006031.6(PCNT):c.117G>A (p.Ala39=)	LOC128092249, PCNT (R51Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2887366	NM_006031.6(PCNT):c.129C>T (p.Gly43=)	LOC128092249, PCNT (A55V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2880452	NM_006031.6(PCNT):c.132G>C (p.Ser44=)	LOC128092249, PCNT (R56P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 436240	NM_006031.6(PCNT):c.138C>T (p.Val46=)	LOC128092249, PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 2108844	NM_006031.6(PCNT):c.143_146dup (p.Gln51fs)	LOC128092249, PCNT (Q51fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 211842	NM_006031.6(PCNT):c.142G>C (p.Ala48Pro)	LOC128092249, PCNT (A48P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2904440	NM_006031.6(PCNT):c.144G>A (p.Ala48=)	LOC128092249, PCNT (R60H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2882544	NM_006031.6(PCNT):c.144G>T (p.Ala48=)	LOC128092249, PCNT (R60L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2799656	NM_006031.6(PCNT):c.144G>C (p.Ala48=)	LOC128092249, PCNT (R60P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1900559	NM_006031.6(PCNT):c.150C>G (p.Val50=)	LOC128092249, PCNT (S62C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2826894	NM_006031.6(PCNT):c.153G>A (p.Gln51=)	LOC128092249, PCNT (R63K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2116128	NM_006031.6(PCNT):c.161G>A (p.Ser54Asn)	LOC128092249, PCNT (V66I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701086	NM_006031.6(PCNT):c.162T>C (p.Ser54=)	LOC128092249, PCNT (V66A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2983008	NM_006031.6(PCNT):c.165G>A (p.Pro55=)	LOC128092249, PCNT (R67Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign

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Items: 32