Related gene-specific medical variations for Gene (Select 50651) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038590	NM_001080397.3(SLC45A1):c.-81C>T	LOC129929288, SLC45A1	Single nucleotide variant (5 prime UTR variant)	SLC45A1-related disorder	GLikely benign
Select item 983315	NM_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp)	SLC45A1 (G191D +2 more)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 727086	NM_001080397.3(SLC45A1):c.-43C>G	LOC129929288, SLC45A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 688054	GRCh37/hg19 1p36.23(chr1:8095499-8386742)x3	SLC45A1	Copy number gain	not provided	GUncertain significance

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