Related gene-specific medical variations for Gene (Select 9915) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336935	NM_014862.4(ARNT2):c.1148G>A (p.Arg383His)	ARNT2, LOC101929586 (R383H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1949298	NM_014862.4(ARNT2):c.1125C>T (p.His375=)	ARNT2, LOC101929586	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1918767	NM_014862.4(ARNT2):c.1147C>T (p.Arg383Cys)	ARNT2, LOC101929586 (R383C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1341859	NM_014862.4(ARNT2):c.1589C>A (p.Ser530Tyr)	ARNT2 (S530Y)	Single nucleotide variant (missense variant)	Webb-Dattani syndrome	GUncertain significance
Select item 1341858	NM_014862.4(ARNT2):c.1414G>A (p.Gly472Ser)	ARNT2 (G472S)	Single nucleotide variant (missense variant)	Webb-Dattani syndrome	GUncertain significance
Select item 980538	GRCh37/hg19 15q25.1(chr15:80596245-80823223)x3	ARNT2	Copy number gain	not provided	GUncertain significance
Select item 445601	NM_014862.4(ARNT2):c.2113G>T (p.Asp705Tyr)	ARNT2 (D705Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar