LOC100507346[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
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 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	LOC130002135, LOC130002136 +94 more	Copy number loss	Gorlin syndrome	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 657386	NC_000009.12:g.(?_95101697)_(95508371_?)del	AOPEP, FANCC +21 more	Deletion	Gorlin syndrome	GPathogenic
Select item 456067	NC_000009.12:g.(?_95101700)_(95508367_?)del	AOPEP, FANCC +21 more	Deletion	Fanconi anemia +1 more	GPathogenic
Select item 583893	NC_000009.11:g.(?_97863983)_(98270649_?)dup	LOC124310595, LOC124310596 +21 more	Duplication	Fanconi anemia	GUncertain significance
Select item 59121	GRCh38/hg38 9q22.32(chr9:95316018-95668838)x1	FANCC, LOC100507346 +17 more	Copy number loss	See cases	GPathogenic
Select item 417450	NC_000009.12:g.(?_95442982)_(95508549_?)del	LOC130002133, LOC130002132 +5 more	Deletion	Gorlin syndrome	GPathogenic
Select item 453767	NC_000009.12:g.(?_95446906)_(95508367_?)del	LOC100507346, LOC110121043 +5 more	Deletion	Gorlin syndrome	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 3049060	NM_000264.5(PTCH1):c.2561-2053G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	PTCH1-related condition	GLikely benign
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 1644523	NM_000264.5(PTCH1):c.2560+20T>C	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1588235	NM_000264.5(PTCH1):c.2560+20T>G	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2128989	NM_000264.5(PTCH1):c.2560+19C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2904225	NM_000264.5(PTCH1):c.2560+15_2560+16insCA	LOC100507346, PTCH1	Insertion (intron variant +1 more)	Gorlin syndrome	GLikely benign
Select item 1670462	NM_000264.5(PTCH1):c.2560+15G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2837261	NM_000264.5(PTCH1):c.2560+12T>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 367666	NM_000264.5(PTCH1):c.2560+11G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 1692308	NM_000264.5(PTCH1):c.2560+10C>T	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 215692	NM_000264.5(PTCH1):c.2560+9_2560+10delinsCT	LOC100507346, PTCH1	Indel (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2706570	NM_000264.5(PTCH1):c.2560+9G>T	LOC100507346, PTCH1	Single nucleotide variant (intron variant +1 more)	Gorlin syndrome	GLikely benign
Select item 255677	NM_000264.5(PTCH1):c.2560+9G>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GBenign
Select item 215691	NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC	LOC100507346, PTCH1	Indel (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135882	NM_000264.5(PTCH1):c.2560+8G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 1539331	NM_000264.5(PTCH1):c.2560+7C>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 135881	NM_000264.5(PTCH1):c.2560+7C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related condition +3 more	GBenign/Likely benign
Select item 1341803	NM_000264.5(PTCH1):c.2560+6A>G	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 2122382	NM_000264.5(PTCH1):c.2560+1G>A	LOC100507346, PTCH1	Single nucleotide variant (splice donor variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1793104	NM_000264.5(PTCH1):c.2560+1G>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 417458	NC_000009.12:g.(?_95467116)_(95469931_?)del	LOC100507346, PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 428818	NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro)	LOC100507346, PTCH1 (Q787P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1793021	NM_000264.5(PTCH1):c.2556T>A (p.Leu852=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 524529	NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro)	LOC100507346, PTCH1 (L786P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
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 2626232	NM_000264.5(PTCH1):c.2549A>T (p.Asp850Val)	LOC100507346, PTCH1 (D798V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1055344	NM_000264.5(PTCH1):c.2548G>C (p.Asp850His)	LOC100507346, PTCH1 (D699H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1394631	NM_000264.5(PTCH1):c.2545del (p.Arg849fs)	LOC100507346, PTCH1 (R698fs +4 more)	Deletion (frameshift variant +1 more)	Gorlin syndrome	GPathogenic
Select item 2801444	NM_000264.5(PTCH1):c.2544C>T (p.Phe848=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 218279	NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs)	LOC100507346, PTCH1 (Y696fs +4 more)	Indel (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 215690	NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1059612	NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys)	LOC100507346, PTCH1 (Y696C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 2586371	NM_000264.5(PTCH1):c.2537A>C (p.His846Pro)	LOC100507346, PTCH1 (H695P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1078328	NM_000264.5(PTCH1):c.2535G>A (p.Leu845=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2750961	NM_000264.5(PTCH1):c.2532G>A (p.Trp844Ter)	LOC100507346, PTCH1 (W693* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1442764	NM_000264.5(PTCH1):c.2532G>T (p.Trp844Cys)	LOC100507346, PTCH1 (W844C +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1037360	NM_000264.5(PTCH1):c.2532G>C (p.Trp844Cys)	LOC100507346, PTCH1 (W693C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1301405	NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)	LOC100507346, PTCH1 (W693S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 1505183	NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg)	LOC100507346, PTCH1 (W792R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 638989	NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr)	LOC100507346, PTCH1 (M692T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1897746	NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)	LOC100507346, PTCH1 (M777L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1792602	NM_000264.5(PTCH1):c.2527A>G (p.Met843Val)	LOC100507346, PTCH1 (M791V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2564408	NM_000264.5(PTCH1):c.2521C>T (p.Pro841Ser)	LOC100507346, PTCH1 (P789S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1714074	NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)	LOC100507346, PTCH1 (P690T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 2046478	NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)	LOC100507346, PTCH1 (L774F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1792480	NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 639027	NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs)	LOC100507346, PTCH1 (K687fs +4 more)	Microsatellite (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 2740294	NM_000264.5(PTCH1):c.2514dup (p.Gln839fs)	LOC100507346, PTCH1 (Q773fs +4 more)	Duplication (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 568190	NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter)	LOC100507346, PTCH1 (Q773* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1155617	NM_000264.5(PTCH1):c.2514A>G (p.Lys838=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2144501	NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)	LOC100507346, PTCH1 (K687I +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 642884	NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr)	LOC100507346, PTCH1 (K786T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 821383	NM_000264.5(PTCH1):c.2512A>G (p.Lys838Glu)	LOC100507346, PTCH1 (K837E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2068326	NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)	LOC100507346, PTCH1 (N785K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1421531	NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys)	LOC100507346, PTCH1 (N771K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1354184	NM_000264.5(PTCH1):c.2511del (p.Asn837fs)	LOC100507346, PTCH1 (N785fs +4 more)	Deletion (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 796638	NM_000264.5(PTCH1):c.2511C>T (p.Asn837=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GLikely benign
Select item 987084	NM_000264.5(PTCH1):c.2506G>T (p.Glu836Ter)	LOC100507346, PTCH1 (E685* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 219974	NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys)	LOC100507346, PTCH1 (E770K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 701526	NM_000264.5(PTCH1):c.2505A>G (p.Glu835=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 656476	NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter)	LOC100507346, PTCH1 (E835* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GPathogenic
Select item 1792253	NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 929567	NM_000264.5(PTCH1):c.2500T>G (p.Leu834Val)	LOC100507346, PTCH1 (L683V +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7	GUncertain significance
Select item 999925	NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile)	LOC100507346, PTCH1 (M682I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome	GUncertain significance

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