C0037268[trait identifier] AND "Kariminejad - Najmabadi Pathology & Ge - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180810	NM_015331.3(NCSTN):c.1635C>G (p.Tyr545Ter)	NCSTN (Y407* +2 more)	Single nucleotide variant (nonsense)	Abnormality of the skin	GPathogenic
Select item 1180731	NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter)	LAMC2 (L1122*)	Single nucleotide variant (nonsense)	Abnormality of the skin +1 more	GPathogenic/Likely pathogenic
Select item 1180728	NM_000228.3(LAMB3):c.2582C>A (p.Ser861Ter)	LAMB3 (S861*)	Single nucleotide variant (nonsense)	Abnormality of the skin	GLikely pathogenic
Select item 1180738	NM_000228.3(LAMB3):c.1289-2_1296del	LAMB3	Deletion (splice acceptor variant)	Abnormality of the skin	GPathogenic
Select item 1180821	NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)	ABCA12 (E568fs +1 more)	Deletion (non-coding transcript variant +1 more)	Abnormality of the skin	GLikely pathogenic
Select item 623128	NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	COL7A1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa dystrophica +6 more	GConflicting classifications of pathogenicity
Select item 1180806	NM_000094.4(COL7A1):c.6464del (p.Pro2155fs)	COL7A1 (P2155fs)	Deletion (frameshift variant)	Abnormality of the skin	GLikely pathogenic
Select item 1180763	NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)	COL7A1 (P2090fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1180836	NM_000094.4(COL7A1):c.3117_3120del (p.Glu1039fs)	COL7A1 (E1039fs)	Deletion (frameshift variant)	Abnormality of the skin	GPathogenic
Select item 1180808	NM_001374623.1(PNPLA1):c.670A>G (p.Asn224Asp)	PNPLA1 (N129D +2 more)	Single nucleotide variant (missense variant)	Abnormality of the skin	GLikely pathogenic
Select item 1180623	NM_201384.3(PLEC):c.647_656del (p.Leu216fs)	PLEC (L184fs +6 more)	Deletion (frameshift variant)	Abnormality of the skin	GLikely pathogenic
Select item 1180606	NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)	COL17A1 (W1193*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia +18 more	GPathogenic/Likely pathogenic
Select item 3788	NM_000372.5(TYR):c.286dup (p.Met96fs)	TYR (M96fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1180809	NM_000372.5(TYR):c.996G>A (p.Met332Ile)	TYR (M332I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	TYR-related condition +10 more	GPathogenic/Likely pathogenic
Select item 617799	NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	TYR (G346E)	Single nucleotide variant (missense variant)	Abnormality of the skin +5 more	GPathogenic/Likely pathogenic
Select item 99542	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	TYR (R402*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	TYR-related condition +8 more	GPathogenic/Likely pathogenic
Select item 12489	NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	TGM1 (R389H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12488	NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	TGM1 (V383M)	Single nucleotide variant (missense variant)	TGM1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 12481	NM_000359.3(TGM1):c.428G>A (p.Arg143His)	TGM1 (R143H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12485	NM_000359.3(TGM1):c.425G>A (p.Arg142His)	TGM1 (R142H)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +3 more	GPathogenic/Likely pathogenic
Select item 372530	NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	TGM1 (Y136*)	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 1180734	NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys)	CERS3 (N305K +1 more)	Single nucleotide variant (missense variant)	Abnormality of the skin	GLikely pathogenic
Select item 1180727	NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter)	CERS3 (R75* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the skin	GLikely pathogenic
Select item 230597	NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)	MIR4733HG, LOC111811965 +1 more (Q11*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 68360	NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)	NF1 (L216P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 962619	NM_001042492.3(NF1):c.1185+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 230673	NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	NF1 (R440*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 485945	NM_001042492.3(NF1):c.2002-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Abnormality of the skin +3 more	GPathogenic/Likely pathogenic
Select item 1180602	NM_001042492.3(NF1):c.3297del (p.Lys1099fs)	NF1 (K1099fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1180644	NM_001042492.3(NF1):c.3816_3817del (p.Gln1272fs)	NF1 (Q1272fs)	Deletion (frameshift variant)	Abnormality of the skin	GPathogenic
Select item 220152	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1 (R1534* +1 more)	Single nucleotide variant (nonsense)	Subcutaneous neurofibroma +8 more	GPathogenic/Likely pathogenic
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic
Select item 66385	NM_000526.5(KRT14):c.92del (p.Ile31fs)	KRT14 (I31fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 14587	NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)	KRT17 (N92S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1180851	NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)	ITGB4 (R379*)	Single nucleotide variant (nonsense)	Abnormality of the skin	GLikely pathogenic
Select item 1180790	NM_001942.4(DSG1):c.684+1G>A	DSG1	Single nucleotide variant (splice donor variant)	Abnormality of the skin	GLikely pathogenic
Select item 224175	NM_017671.5(FERMT1):c.958-1G>A	FERMT1	Single nucleotide variant (splice acceptor variant)	Abnormality of the skin	GLikely pathogenic

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Items: 41