"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC45A2"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916266	NM_016180.5(SLC45A2):c.1509C>T (p.Thr503=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809741	NM_016180.5(SLC45A2):c.1051C>A (p.Pro351Thr)	SLC45A2 (S242Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871187	NM_016180.5(SLC45A2):c.611A>G (p.His204Arg)	SLC45A2 (H204R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 521031	NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)	SLC45A2 (W202C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 871188	NM_016180.5(SLC45A2):c.443G>A (p.Gly148Asp)	SLC45A2 (G148D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871189	NM_016180.5(SLC45A2):c.386-1G>A	SLC45A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2655390	NC_000005.10:g.33985660TC[2]	SLC45A2	Microsatellite	not provided	GBenign
Select item 268192	GRCh37/hg19 5p13.2(chr5:33947411-34736875)x3	SLC45A2, AMACR +2 more	Copy number gain	not provided	GLikely benign

ClinVar