LOC130064020[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 1971476	NM_004750.5(CRLF1):c.1212+17C>T	CRLF1, LOC130064020	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2092628	NM_004750.5(CRLF1):c.1212+9G>A	CRLF1, LOC130064020	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101962	NM_004750.5(CRLF1):c.1204C>T (p.Arg402Cys)	CRLF1, LOC130064020 (R402C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749732	NM_004750.5(CRLF1):c.1203C>T (p.Thr401=)	CRLF1, LOC130064020	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719171	NM_004750.5(CRLF1):c.1194G>T (p.Ser398=)	CRLF1, LOC130064020	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar