"GeneDx"[submitter] AND "LOC100507346"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 59120	GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1	AOPEP, ERCC6L2 +52 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 683967	NM_000264.5(PTCH1):c.2561-1786C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1296341	NM_000264.5(PTCH1):c.2561-1887C>T	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189439	NM_000264.5(PTCH1):c.2561-1987G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672692	NM_000264.5(PTCH1):c.2561-2027G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683966	NM_000264.5(PTCH1):c.2561-2115T>G	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59122	GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1	LOC100507346, PTCH1	Copy number loss	See cases	GPathogenic
Select item 1208228	NM_000264.5(PTCH1):c.2560+243G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219912	NM_000264.5(PTCH1):c.2560+215G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206864	NM_000264.5(PTCH1):c.2560+134T>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1193155	NM_000264.5(PTCH1):c.2560+108G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1208125	NM_000264.5(PTCH1):c.2560+32G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely 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 135882	NM_000264.5(PTCH1):c.2560+8G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 135881	NM_000264.5(PTCH1):c.2560+7C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
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 2446481	NM_000264.5(PTCH1):c.2553G>T (p.Trp851Cys)	LOC100507346, PTCH1 (W700C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 450564	NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)	LOC100507346, PTCH1 (Y781* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 524521	NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)	LOC100507346, PTCH1 (M833V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 135879	NM_000264.5(PTCH1):c.2484C>T (p.Asn828=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +3 more	GLikely 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)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 1397983	NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr)	LOC100507346, PTCH1 (H672Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 388672	NM_000264.5(PTCH1):c.2466A>G (p.Leu822=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 429843	NM_000264.5(PTCH1):c.2453T>G (p.Leu818Ter)	LOC100507346, PTCH1 (L752* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 971365	NM_000264.5(PTCH1):c.2450A>G (p.His817Arg)	LOC100507346, PTCH1 (H816R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632963	NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg)	LOC100507346, PTCH1 (Q750R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 379219	NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)	LOC100507346, PTCH1 (P747A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1021328	NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu)	LOC100507346, PTCH1 (Q657E +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 1313136	NM_000264.5(PTCH1):c.2417_2418delinsGGACT (p.Val806delinsGlyThr)	LOC100507346, PTCH1	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2579307	NM_000264.5(PTCH1):c.2414T>A (p.Ile805Lys)	LOC100507346, PTCH1 (I654K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524567	NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)	LOC100507346, PTCH1 (I805V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3364632	NM_000264.5(PTCH1):c.2390A>G (p.Tyr797Cys)	LOC100507346, PTCH1 (Y646C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363310	NM_000264.5(PTCH1):c.2354C>T (p.Thr785Ile)	LOC100507346, PTCH1 (T719I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 409197	NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp)	LOC100507346, PTCH1 (R717W +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 842640	NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu)	LOC100507346, PTCH1 (D721E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 215689	NM_000264.5(PTCH1):c.2319C>T (p.Asp773=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 3369405	NM_000264.5(PTCH1):c.2309G>T (p.Arg770Leu)	LOC100507346, PTCH1 (R619L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 226039	NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)	LOC100507346, PTCH1 (T618I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135878	NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +4 more	GBenign/Likely benign
Select item 512966	NM_000264.5(PTCH1):c.2281C>T (p.Leu761=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 677049	NM_000264.5(PTCH1):c.2250+126A>G	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246997	NM_000264.5(PTCH1):c.2250+108del	LOC100507346, PTCH1	Deletion (intron variant)	not provided	GBenign
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 952796	NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln)	LOC100507346, PTCH1 (P596Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1306776	NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn)	LOC100507346, PTCH1 (K595N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
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 820888	NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys)	LOC100507346, PTCH1 (Y674C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 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 1072731	NM_000264.5(PTCH1):c.2178dup (p.Cys727fs)	LOC100507346, PTCH1 (C576fs +4 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 641821	NM_000264.5(PTCH1):c.2177C>A (p.Pro726His)	LOC100507346, PTCH1 (P674H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 409194	NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)	LOC100507346, PTCH1 (P726S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 524518	NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys)	LOC100507346, PTCH1 (S713C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 545897	NM_000264.5(PTCH1):c.2135dup (p.Ser713fs)	LOC100507346, PTCH1 (S562fs +4 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 820723	NM_000264.5(PTCH1):c.2105C>T (p.Pro702Leu)	LOC100507346, PTCH1 (P636L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 183062	NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)	LOC100507346, PTCH1 (P636R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 409160	NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile)	LOC100507346, PTCH1 (S701I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 419178	NM_000264.5(PTCH1):c.2072_2073del (p.Thr691fs)	LOC100507346, PTCH1 (T540fs +4 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 215686	NM_000264.5(PTCH1):c.2073C>T (p.Thr691=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 453813	NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile)	LOC100507346, PTCH1 (V690I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 2577636	NM_000264.5(PTCH1):c.2057C>T (p.Ser686Phe)	LOC100507346, PTCH1 (S535F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 215685	NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys)	LOC100507346, PTCH1 (E618K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 237466	NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys)	LOC100507346, PTCH1 (R616C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 3370791	NM_000264.5(PTCH1):c.2029ACC[3] (p.Thr678_Ala679insThr)	LOC100507346, PTCH1	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 820499	NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met)	LOC100507346, PTCH1 (T665M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 237463	NM_000264.5(PTCH1):c.1994G>A (p.Arg665His)	LOC100507346, PTCH1 (R599H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 237462	NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)	LOC100507346, PTCH1 (Q597H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2502717	NM_000264.5(PTCH1):c.1984G>T (p.Val662Phe)	LOC100507346, PTCH1 (V511F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1346062	NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala)	LOC100507346, PTCH1 (T595A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1306875	NM_000264.5(PTCH1):c.1960A>T (p.Thr654Ser)	LOC100507346, PTCH1 (T503S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 486180	NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)	LOC100507346, PTCH1 (S583G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3378363	NM_000264.5(PTCH1):c.1922C>T (p.Pro641Leu)	LOC100507346, PTCH1 (P490L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 220182	NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)	LOC100507346, PTCH1 (R572H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 820324	NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile)	LOC100507346, PTCH1 (T571I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2586398	NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)	LOC100507346, PTCH1 (N635Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 453802	NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn)	LOC100507346, PTCH1 (D635N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 545799	NM_000264.5(PTCH1):c.1893_1902del (p.Asp632fs)	LOC100507346, PTCH1 (D566fs +4 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 565614	NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)	LOC100507346, PTCH1 (V556L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 1254685	NM_000264.5(PTCH1):c.1847+260G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 677045	NM_000264.5(PTCH1):c.1847+187C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 367668	NM_000264.5(PTCH1):c.1847+14C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 453801	NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)	LOC100507346, PTCH1 (C613R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 367669	NM_000264.5(PTCH1):c.1808G>A (p.Arg603His)	LOC100507346, PTCH1 (R537H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2580429	NM_000264.5(PTCH1):c.1775T>C (p.Phe592Ser)	LOC100507346, PTCH1 (F441S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1290901	NM_000264.5(PTCH1):c.1729-11del	LOC100507346, PTCH1	Deletion (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign

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Items: 93