Related gene-specific medical variations for Gene (Select 1657) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1690365	NM_001290321.3(DMXL1):c.8102G>C (p.Trp2701Ser)	DMXL1 (W2372S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690364	NM_001290321.3(DMXL1):c.3448G>A (p.Gly1150Ser)	DMXL1 (G1150S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 809856	GRCh37/hg19 5q23.1(chr5:118500202-118513939)x1	DMXL1	Copy number loss	not provided	GUncertain significance

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