ClinVar for MedGen (Select 863145) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1540880	NM_014862.4(ARNT2):c.1918+18G>A	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome +1 more	GBenign/Likely benign
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 +2 more	GUncertain significance
Select item 1192452	NM_014862.4(ARNT2):c.1513+78T>C	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome +1 more	GBenign
Select item 1192451	NM_014862.4(ARNT2):c.1513+29G>C	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome +1 more	GBenign
Select item 1192450	NM_014862.4(ARNT2):c.726-69T>C	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome +1 more	GBenign
Select item 1192449	NM_014862.4(ARNT2):c.195-28del	ARNT2	Deletion (intron variant)	Webb-Dattani syndrome	GBenign
Select item 1168723	NM_014862.4(ARNT2):c.195-16C>T	ARNT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1165402	NM_014862.4(ARNT2):c.2035G>A (p.Gly679Ser)	ARNT2 (G679S)	Single nucleotide variant (missense variant)	Webb-Dattani syndrome +1 more	GBenign
Select item 1033304	NM_014862.4(ARNT2):c.1222C>G (p.Arg408Gly)	ARNT2 (R408G)	Single nucleotide variant (missense variant)	Webb-Dattani syndrome	GUncertain significance
Select item 981216	NM_014862.4(ARNT2):c.726-3T>G	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome	GUncertain significance
Select item 805850	NM_014862.4(ARNT2):c.1372_1373dup (p.Tyr459fs)	ARNT2 (Y459fs)	Duplication (frameshift variant)	Webb-Dattani syndrome	GPathogenic
Select item 801401	NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser)	ARNT2 (P334S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 801400	NM_014862.4(ARNT2):c.791+5G>A	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome	GLikely pathogenic
Select item 771477	NM_014862.4(ARNT2):c.2007C>T (p.Ser669=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign