LOC112694701[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 2293168	NM_001008409.5(TTLL9):c.326G>A (p.Arg109Gln)	LOC112694701, TTLL9 (R109Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519893	NM_001008409.5(TTLL9):c.361C>T (p.Arg121Trp)	LOC112694701, TTLL9 (R121W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184656	NM_001008409.5(TTLL9):c.371T>G (p.Leu124Arg)	LOC112694701, TTLL9 (L124R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536166	NM_001008409.5(TTLL9):c.442G>A (p.Glu148Lys)	LOC112694701, TTLL9 (E148K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar