C0004779[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 453939	NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +1 more	GLikely benign
Select item 415448	NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)	PTCH2 (T988M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 415450	NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys)	PTCH2 (E928K)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 415452	NM_003738.5(PTCH2):c.2695+8T>C	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GBenign
Select item 239557	NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 239556	NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=)	PTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 415453	NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 239555	NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)	PTCH2 (H622Y)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 415458	NM_003738.5(PTCH2):c.1596C>T (p.Ala532=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 453925	NM_003738.5(PTCH2):c.1569G>A (p.Ala523=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GBenign
Select item 453924	NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met)	PTCH2 (T498M)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GLikely benign
Select item 239554	NM_003738.5(PTCH2):c.1425G>A (p.Ala475=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 415459	NM_003738.5(PTCH2):c.1371+8A>G	PTCH2	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GBenign
Select item 239553	NM_003738.5(PTCH2):c.1080G>T (p.Val360=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GBenign
Select item 239562	NM_003738.5(PTCH2):c.840T>C (p.Ser280=)	PTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 415460	NM_003738.5(PTCH2):c.687C>T (p.Ala229=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 239563	NM_003738.5(PTCH2):c.90G>A (p.Leu30=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 239561	NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile)	PTCH2 (T15I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 135899	NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 135898	NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 92698	NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +4 more	GBenign/Likely benign
Select item 387632	NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
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 132731	NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)	PTCH1 (R1237C +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +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 255684	NM_000264.5(PTCH1):c.3804+32T>C	PTCH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 237487	NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 237484	NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met)	PTCH1 (T1148M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 215459	NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 379447	NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)	PTCH1 (A1142T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 221099	NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +4 more	GBenign
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 220553	NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign
Select item 135891	NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 135890	NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 220385	NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 255681	NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 220451	NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +4 more	GBenign
Select item 220439	NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +4 more	GBenign
Select item 255678	NM_000264.5(PTCH1):c.2887+21A>G	PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7 +3 more	GBenign
Select item 215457	NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 415468	NM_000264.5(PTCH1):c.2595C>T (p.Thr865=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 415466	NM_000264.5(PTCH1):c.2561-7T>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GBenign/Likely benign
Select item 255677	NM_000264.5(PTCH1):c.2560+9G>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 415472	NM_000264.5(PTCH1):c.2439G>A (p.Pro813=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 255675	NM_000264.5(PTCH1):c.2250+25T>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 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 132699	NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign
Select item 1677175	NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)	LOC100507346, PTCH1 (S582* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic/Likely pathogenic
Select item 415480	NM_000264.5(PTCH1):c.2049C>T (p.Ser683=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GBenign/Likely benign
Select item 215684	NM_000264.5(PTCH1):c.2034C>T (p.Thr678=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 135874	NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 237461	NM_000264.5(PTCH1):c.1962G>T (p.Thr654=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 221098	NM_000264.5(PTCH1):c.1854C>T (p.Cys618=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +4 more	GBenign
Select item 215456	NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 255672	NM_000264.5(PTCH1):c.1728+16T>A	PTCH1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255670	NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +4 more	GBenign
Select item 138834	NM_000264.5(PTCH1):c.1665T>C (p.Asn555=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +4 more	GBenign
Select item 255669	NM_000264.5(PTCH1):c.1504-8T>C	PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7 +4 more	GBenign
Select item 135868	NM_000264.5(PTCH1):c.1216-10G>A	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome	GLikely benign
Select item 654759	NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)	PTCH1 (Q334* +3 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome	GPathogenic
Select item 220376	NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 220375	NM_000264.5(PTCH1):c.1074T>C (p.His358=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 132726	NM_000264.5(PTCH1):c.735A>G (p.Thr245=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 2505296	NM_000264.5(PTCH1):c.655-1G>T	PTCH1	Single nucleotide variant (splice acceptor variant)	Gorlin syndrome	GLikely pathogenic
Select item 219807	NM_000264.5(PTCH1):c.420A>G (p.Leu140=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 255685	NM_000264.5(PTCH1):c.394+24C>T	PTCH1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 132719	NM_000264.5(PTCH1):c.318C>T (p.Leu106=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 387235	NM_000264.5(PTCH1):c.-20G>A	LOC130002133, PTCH1	Single nucleotide variant (5 prime UTR variant +2 more)	Gorlin syndrome +1 more	GLikely benign
Select item 260689	NM_016169.4(SUFU):c.182+16C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +5 more	GBenign
Select item 413912	NM_016169.4(SUFU):c.600C>T (p.Ile200=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 453970	NM_016169.4(SUFU):c.645C>T (p.Asn215=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 260687	NM_016169.4(SUFU):c.1299T>C (p.Ile433=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 260688	NM_016169.4(SUFU):c.1365+19T>C	SUFU	Single nucleotide variant (intron variant)	not provided +5 more	GBenign

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Items: 75