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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645011	NM_003097.6(SNRPN):c.483T>C (p.Ile161=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 723490	NM_003097.6(SNRPN):c.624T>G (p.Ala208=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2578750	GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 2578749	GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2498629	GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1	PWAR4, HERC2 +22 more	Copy number loss	not provided	GPathogenic
Select item 1879315	GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1879314	GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1	ATP10A, CYFIP1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1012382	GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4	GABRA5, ATP10A +23 more	Copy number gain	not provided	GPathogenic

ClinVar