6665[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 2618100	NM_005576.4(LOXL1):c.143A>G (p.Asn48Ser)	LOXL1, LOXL1-AS1 (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222552	NM_005576.4(LOXL1):c.202C>T (p.Arg68Cys)	LOXL1, LOXL1-AS1 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336047	NM_005576.4(LOXL1):c.203G>A (p.Arg68His)	LOXL1, LOXL1-AS1 (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222399	NM_005576.4(LOXL1):c.221G>C (p.Arg74Pro)	LOXL1, LOXL1-AS1 (R74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361008	NM_005576.4(LOXL1):c.259C>G (p.Arg87Gly)	LOXL1, LOXL1-AS1 (R87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119619	NM_005576.4(LOXL1):c.273C>A (p.Ser91Arg)	LOXL1, LOXL1-AS1 (S91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119620	NM_005576.4(LOXL1):c.288G>T (p.Gln96His)	LOXL1, LOXL1-AS1 (Q96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291098	NM_005576.4(LOXL1):c.290C>T (p.Ala97Val)	LOXL1, LOXL1-AS1 (A97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058343	NM_005576.4(LOXL1):c.327C>T (p.Asp109=)	LOXL1, LOXL1-AS1	Single nucleotide variant (synonymous variant)	LOXL1-related disorder	GLikely benign
Select item 3119621	NM_005576.4(LOXL1):c.357C>A (p.Phe119Leu)	LOXL1, LOXL1-AS1 (F119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14360	NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu)	LOXL1, LOXL1-AS1 (R141L)	Single nucleotide variant (missense variant)	Exfoliation syndrome, susceptibility to	Grisk factor
Select item 2303078	NM_005576.4(LOXL1):c.427C>T (p.Arg143Cys)	LOXL1, LOXL1-AS1 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707936	NM_005576.4(LOXL1):c.432C>T (p.Thr144=)	LOXL1, LOXL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 14361	NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp)	LOXL1, LOXL1-AS1 (G153D)	Single nucleotide variant (missense variant)	LOXL1-related disorder +1 more	GBenign; risk factor
Select item 3055709	NM_005576.4(LOXL1):c.475T>G (p.Ser159Ala)	LOXL1, LOXL1-AS1 (S159A)	Single nucleotide variant (missense variant)	LOXL1-related disorder	GBenign
Select item 2645532	NM_005576.4(LOXL1):c.478G>C (p.Ala160Pro)	LOXL1, LOXL1-AS1 (A160P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3040211	NM_005576.4(LOXL1):c.482C>T (p.Ser161Leu)	LOXL1, LOXL1-AS1 (S161L)	Single nucleotide variant (missense variant)	LOXL1-related disorder	GBenign
Select item 2607445	NM_005576.4(LOXL1):c.581C>A (p.Ala194Glu)	LOXL1, LOXL1-AS1 (A194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511740	NM_005576.4(LOXL1):c.698G>T (p.Arg233Leu)	LOXL1, LOXL1-AS1 (R233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464618	NM_005576.4(LOXL1):c.758C>T (p.Pro253Leu)	LOXL1, LOXL1-AS1 (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038417	NM_005576.4(LOXL1):c.876C>T (p.Asp292=)	LOXL1, LOXL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	LOXL1-related disorder	GBenign
Select item 3119622	NM_005576.4(LOXL1):c.910G>A (p.Asp304Asn)	LOXL1, LOXL1-AS1 (D304N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487469	NM_005576.4(LOXL1):c.910G>C (p.Asp304His)	LOXL1, LOXL1-AS1 (D304H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3291099	NM_005576.4(LOXL1):c.980T>C (p.Leu327Pro)	LOXL1, LOXL1-AS1 (L327P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238222	NM_005576.4(LOXL1):c.988C>T (p.Pro330Ser)	LOXL1, LOXL1-AS1 (P330S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2385872	NM_005576.4(LOXL1):c.998C>G (p.Pro333Arg)	LOXL1, LOXL1-AS1 (P333R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2354870	NM_005576.4(LOXL1):c.1042G>A (p.Gly348Ser)	LOXL1, LOXL1-AS1 (G348S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289685	NM_005576.4(LOXL1):c.1043G>C (p.Gly348Ala)	LOXL1, LOXL1-AS1 (G348A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119617	NM_005576.4(LOXL1):c.1052A>C (p.Gln351Pro)	LOXL1, LOXL1-AS1 (Q351P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3291100	NM_005576.4(LOXL1):c.1096G>C (p.Gly366Arg)	LOXL1, LOXL1-AS1 (G366R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 14362	NM_005576.4(LOXL1):c.1102+1976T>C	LOXL1	Single nucleotide variant (intron variant)	Exfoliation syndrome, susceptibility to	Grisk factor
Select item 3119618	NM_005576.4(LOXL1):c.1235C>G (p.Thr412Ser)	LOXL1 (T412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340087	NM_005576.4(LOXL1):c.1313G>A (p.Arg438Gln)	LOXL1 (R438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386244	NM_005576.4(LOXL1):c.1384G>A (p.Asp462Asn)	LOXL1 (D462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776927	NM_005576.4(LOXL1):c.1467C>T (p.Phe489=)	LOXL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2266812	NM_005576.4(LOXL1):c.1492A>C (p.Thr498Pro)	LOXL1 (T498P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471170	NM_005576.4(LOXL1):c.1567A>C (p.Ile523Leu)	LOXL1 (I523L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360581	NM_005576.4(LOXL1):c.1609G>A (p.Val537Met)	LOXL1 (V537M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041918	NM_005576.4(LOXL1):c.1699A>G (p.Thr567Ala)	LOXL1 (T567A)	Single nucleotide variant (missense variant)	LOXL1-related disorder	GBenign
Select item 1266506	NC_000015.10:g.73952269A>G	LOXL1	Single nucleotide variant	not provided	GBenign
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 75