ClinVar (all) for Orgtrack (Select 505262) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157520	NM_004064.5(CDKN1B):c.334del (p.Ser112fs)	CDKN1B (S112fs)	Deletion (frameshift variant)	Neuroendocrine neoplasm	GLikely pathogenic
Select item 157519	NM_004064.5(CDKN1B):c.279_280insT (p.Pro94fs)	CDKN1B (P94fs)	Insertion (frameshift variant)	Neuroendocrine neoplasm	GLikely pathogenic
Select item 157518	NM_004064.5(CDKN1B):c.127delinsTAA (p.Arg43Ter)	CDKN1B (R43*)	Indel (nonsense)	Neuroendocrine neoplasm	GLikely pathogenic
Select item 156717	NM_181334.6(PRR5-ARHGAP8):c.166C>A (p.Arg56Ser)	PRR5-ARHGAP8, PRR5 (R47S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 156716	NM_016141.4(DYNC1LI1):c.1441C>G (p.Pro481Ala)	DYNC1LI1 (P481A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156715	NM_013447.4(ADGRE2):c.478C>G (p.Leu160Val)	ADGRE2 (L160V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156714	NM_013241.3(FHOD1):c.635C>T (p.Ala212Val)	FHOD1, LOC126862378 (A212V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156713	NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg)	KRT1 (G556R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156712	NM_005961.3(MUC6):c.5911C>T (p.Pro1971Ser)	MUC6 (P1971S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156711	NM_005961.3(MUC6):c.4577A>T (p.His1526Leu)	MUC6 (H1526L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156710	NM_005522.5(HOXA1):c.215A>C (p.His72Pro)	HOXA1 (H72P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156709	NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	MTOR (E2419K)	Single nucleotide variant (missense variant)	CEBALID syndrome +2 more	GPathogenic
Select item 156708	NM_001388492.1(HTT):c.110A>C (p.Gln37Pro)	HTT, LOC109461479 +1 more (Q37P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156707	NM_001452.2(FOXF2):c.899C>G (p.Ala300Gly)	FOXF2, FOXF2-DT (A300G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156706	NM_001164462.2(MUC12):c.8611G>A (p.Ala2871Thr)	MUC12 (A2871T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156705	NM_001123376.3(TMEM72):c.413C>A (p.Ala138Asp)	TMEM72, TMEM72-AS1 (A138D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156704	NM_018300.4(ZNF83):c.824A>C (p.His275Pro)	ZNF83 (H275P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156702	NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)	MTOR (T1977K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156701	NM_004958.4(MTOR):c.5126G>A (p.Arg1709His)	MTOR (R1709H)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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Items: 20