"ITMI"[submitter] AND "PTCH1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41667	NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	PTCH1 (R1376Q +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41666	NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	PTCH1 (R1376W +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135107	NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)	PTCH1 (V1369M +4 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma +2 more	GUncertain significance
Select item 135104	NM_000264.5(PTCH1):c.4274C>T (p.Ser1425Leu)	PTCH1 (S1359L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 135106	NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser)	PTCH1 (G1341S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 135105	NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)	PTCH1 (G1322R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41663	NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	PTCH1 (P1249L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GBenign
Select item 135103	NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser)	PTCH1 (P1248S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 41661	NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	PTCH1 (P1216L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 135102	NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)	PTCH1 (V1190M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 135101	NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)	PTCH1 (R1140H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135100	NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)	PTCH1 (T1129S +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +4 more	GBenign/Likely benign
Select item 41660	NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	PTCH1 (G1097S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 135099	NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)	PTCH1 (V1060I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 135097	NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)	PTCH1 (V1015M +4 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 8224	NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	PTCH1 (T1052M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135096	NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)	LOC100507346, PTCH1 (Q787R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 8223	NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)	LOC100507346, PTCH1 (S827G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 135095	NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)	LOC100507346, PTCH1 (A675V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 8222	NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)	LOC100507346, PTCH1 (T728M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 41654	NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)	LOC100507346, PTCH1 (P659S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +4 more	GBenign/Likely benign
Select item 135110	NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	PTCH1 (D370N +3 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 135109	NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser)	PTCH1 (T350S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 135108	NM_000264.5(PTCH1):c.520G>A (p.Ala174Thr)	PTCH1 (A108T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 135098	NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile)	PTCH1 (T5I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 135093	NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)	LOC130002133, PTCH1 (R47W)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135094	NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln)	LOC130002133, PTCH1 (R35Q)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +1 more	GBenign/Likely benign
Select item 41769	NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)	PTCH1 (D55H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 41768	NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)	PTCH1 (E44G)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 7 +3 more	GLikely benign

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Items: 29