Related gene-specific medical variations for Gene (Select 100507156) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119635	NM_002318.3(LOXL2):c.699G>A (p.Met233Ile)	LOXL2, LOXL2-AS1 (M233I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119634	NM_002318.3(LOXL2):c.668C>T (p.Thr223Met)	LOXL2, LOXL2-AS1 (T223M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119632	NM_002318.3(LOXL2):c.627G>C (p.Lys209Asn)	LOXL2, LOXL2-AS1 (K209N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119631	NM_002318.3(LOXL2):c.478G>A (p.Asp160Asn)	LOXL2, LOXL2-AS1 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557193	NM_002318.3(LOXL2):c.592C>T (p.Arg198Cys)	LOXL2, LOXL2-AS1 (R198C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2411961	NM_002318.3(LOXL2):c.512C>T (p.Ser171Leu)	LOXL2, LOXL2-AS1 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404357	NM_002318.3(LOXL2):c.586C>T (p.Arg196Cys)	LOXL2, LOXL2-AS1 (R196C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2397445	NM_002318.3(LOXL2):c.715G>C (p.Glu239Gln)	LOXL2, LOXL2-AS1 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378274	NM_002318.3(LOXL2):c.460G>A (p.Val154Ile)	LOXL2, LOXL2-AS1 (V154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306338	NM_002318.3(LOXL2):c.598C>A (p.Pro200Thr)	LOXL2, LOXL2-AS1 (P200T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238124	NM_002318.3(LOXL2):c.731C>G (p.Thr244Ser)	LOXL2, LOXL2-AS1 (T244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229733	NM_002318.3(LOXL2):c.683G>A (p.Arg228His)	LOXL2, LOXL2-AS1 (R228H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 792103	NM_002318.3(LOXL2):c.381C>T (p.His127=)	LOXL2, LOXL2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716530	NM_002318.3(LOXL2):c.411A>C (p.Ala137=)	LOXL2, LOXL2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign