Related gene-specific medical variations for Gene (Select 22884) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2546734	NM_014023.4(WDR37):c.721A>G (p.Thr241Ala)	LOC126860809, WDR37 (T241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462352	NM_014023.4(WDR37):c.686C>T (p.Ala229Val)	LOC126860809, WDR37 (A229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2441964	NM_014023.4(WDR37):c.808A>C (p.Ile270Leu)	WDR37 (I270L)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 1342458	NM_014023.4(WDR37):c.1444G>C (p.Gly482Arg)	WDR37 (G482R)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 1341782	NM_014023.4(WDR37):c.808A>G (p.Ile270Val)	WDR37 (I270V)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 1311653	NM_014023.4(WDR37):c.694C>G (p.Leu232Val)	LOC126860809, WDR37 (L232V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279921	NM_014023.4(WDR37):c.659A>G (p.Asp220Gly)	LOC126860809, WDR37 (D220G)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GLikely pathogenic
Select item 1185321	NM_014023.4(WDR37):c.726+22T>C	WDR37, LOC126860809	Single nucleotide variant (intron variant)	Neurooculocardiogenitourinary syndrome	GBenign
Select item 978120	NM_014023.4(WDR37):c.250G>A (p.Asp84Asn)	WDR37 (D84N)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance