"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FLAD1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1352172	NM_025207.5(FLAD1):c.410G>A (p.Arg137Gln)	FLAD1 (R137Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645535	NM_025207.5(FLAD1):c.443G>A (p.Arg148Gln)	FLAD1 (R148Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 932524	NM_025207.5(FLAD1):c.573G>C (p.Val191=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 392387	NM_025207.5(FLAD1):c.645A>G (p.Glu215=)	FLAD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382590	NM_025207.5(FLAD1):c.729C>T (p.Phe243=)	FLAD1	Single nucleotide variant (synonymous variant)	Myopathy with abnormal lipid metabolism +1 more	GBenign/Likely benign
Select item 388747	NM_025207.5(FLAD1):c.1119G>A (p.Gly373=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2639386	NM_025207.5(FLAD1):c.1555-156A>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390893	NM_025207.5(FLAD1):c.1566C>T (p.Tyr522=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic

ClinVar