"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931606	NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)	PTCH1 (P1242L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GUncertain significance
Select item 823625	NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys)	PTCH1 (R1047C +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 931311	NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter)	LOC100507346, PTCH1 (Q728* +4 more)	Single nucleotide variant (nonsense)	Gorlin syndrome +1 more	GPathogenic
Select item 576491	NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)	PTCH1 (S247* +3 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome +1 more	GPathogenic
Select item 930926	NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp)	LOC130002133, PTCH1 (A23D)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 930369	NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys)	LOC130002133, PTCH1 (R13C)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 523402	NM_001083603.3(PTCH1):c.109del (p.Cys37fs)	PTCH1 (C37fs)	Deletion (5 prime UTR variant +1 more)	Uterine leiomyoma +1 more	GUncertain significance
Select item 930744	NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr)	PTCH1 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic