LOXL1-AS1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 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	ABHD17C, ABHD2 +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 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)	LOXL1-related disorder +1 more	GBenign/Likely benign
Select item 14361	NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp)	LOXL1, LOXL1-AS1 (G153D)	Single nucleotide variant (missense variant)	LOXL1-related disorder	GBenign
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 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

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Items: 36