"GeneDx"[submitter] AND "SLC45A1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 3364709	NM_001080397.3(SLC45A1):c.45C>G (p.Phe15Leu)	SLC45A1 (F15L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3164877	NM_001080397.3(SLC45A1):c.673G>A (p.Ala225Thr)	SLC45A1 (A194T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1302025	NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 451752	NM_001080397.3(SLC45A1):c.1150G>T (p.Gly384Cys)	SLC45A1 (G418C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712902	NM_001080397.3(SLC45A1):c.1443+1G>A	SLC45A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 451751	NM_001080397.3(SLC45A1):c.2224C>T (p.Arg742Trp)	SLC45A1 (R776W +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1282969	NM_001080397.3(SLC45A1):c.*20C>T	SLC45A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 3360792	NM_001080397.3(SLC45A1):c.1606T>C (p.Ser536Pro)	SLC45A1 (S334P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance