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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654585	NM_005663.5(NELFA):c.1356G>A (p.Thr452=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710318	NM_005663.5(NELFA):c.1335C>T (p.Phe445=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788777	NM_005663.5(NELFA):c.1290C>T (p.Asn430=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654586	NM_005663.5(NELFA):c.576C>T (p.Ser192=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic

ClinVar