"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GALR1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648818	NM_001480.4(GALR1):c.426C>T (p.Arg142=)	GALR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648819	NM_001480.4(GALR1):c.841T>G (p.Ser281Ala)	GALR1 (S281A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ADNP2, ATP9B +37 more	Copy number loss	not provided	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LINC-ROR, LINC00683 +80 more	Copy number loss	not provided	GPathogenic
Select item 624476	GRCh37/hg19 18q23(chr18:74285842-78010032)x1	RBFA, SALL3 +14 more	Copy number loss	not provided	GUncertain significance
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic

ClinVar