Related gene-specific medical variations for Gene (Select 23446) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345165	NM_080546.5(SLC44A1):c.126+7A>G	LOC126860714, SLC44A1	Single nucleotide variant (intron variant)	SLC44A1-related disorder	GBenign
Select item 3319831	NM_080546.5(SLC44A1):c.38G>T (p.Ser13Ile)	LOC126860714, SLC44A1 (S13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164816	NM_080546.5(SLC44A1):c.71G>A (p.Arg24His)	LOC126860714, SLC44A1 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362370	NM_080546.5(SLC44A1):c.70C>T (p.Arg24Cys)	LOC126860714, SLC44A1 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281347	NM_080546.5(SLC44A1):c.58C>T (p.Pro20Ser)	LOC126860714, SLC44A1 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804415	NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter)	SLC44A1 (Q337*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 202237	GRCh37/hg19 9q31.1(chr9:107972883-108105377)x3	SLC44A1	Copy number gain	See cases	GUncertain significance

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