"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar

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Items: 20

	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)	PTCH1-related condition +5 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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41665	NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)	PTCH1 (R1325W +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related condition +3 more	GLikely benign
Select item 41664	NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)	PTCH1 (G1277R +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related condition +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)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 41662	NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)	PTCH1 (R1231Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 41661	NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	PTCH1 (P1216L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 41660	NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	PTCH1 (G1097S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41659	NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)	PTCH1 (V1017M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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)	PTCH1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 41657	NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)	PTCH1 (R879Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 41656	NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)	PTCH1 (R827H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41655	NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)	LOC100507346, PTCH1 (V763M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
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)	PTCH1-related condition +4 more	GBenign
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)	Holoprosencephaly 7 +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)	PTCH1-related condition +5 more	GBenign/Likely benign
Select item 41653	NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg)	LOC100507346, PTCH1 (L631R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41658	NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe)	PTCH1 (L102F +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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)	PTCH1-related condition +4 more	GBenign/Likely benign

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Items: 20