ClinVar for MedGen (Select 863698) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065966	NM_001378457.1(DMXL2):c.7699G>A (p.Gly2567Ser)	DMXL2 (G1893S +4 more)	Single nucleotide variant (missense variant +2 more)	Polyendocrine-polyneuropathy syndrome	GUncertain significance
Select item 1953616	NM_001378457.1(DMXL2):c.5492A>G (p.Lys1831Arg)	DMXL2 (K1158R +3 more)	Single nucleotide variant (missense variant +1 more)	Polyendocrine-polyneuropathy syndrome +1 more	GUncertain significance
Select item 1471673	NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val)	DMXL2 (M2515V +4 more)	Single nucleotide variant (missense variant +2 more)	Polyendocrine-polyneuropathy syndrome +4 more	GUncertain significance
Select item 1463102	NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile)	DMXL2 (V1129I +1 more)	Single nucleotide variant (missense variant +2 more)	Polyendocrine-polyneuropathy syndrome +1 more	GUncertain significance
Select item 1397986	NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp)	DMXL2 (E956D +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 81 +4 more	GConflicting classifications of pathogenicity
Select item 1255512	NM_001378457.1(DMXL2):c.81C>T (p.Pro27=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 71 +3 more	GBenign
Select item 1255511	NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro)	DMXL2 (S1208P +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 71 +3 more	GBenign
Select item 1255510	NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 71 +3 more	GBenign
Select item 1255509	NM_001378457.1(DMXL2):c.5051+23G>A	DMXL2	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 71 +3 more	GBenign
Select item 1255508	NM_001378457.1(DMXL2):c.7520+35del	DMXL2	Deletion (intron variant)	Polyendocrine-polyneuropathy syndrome +3 more	GBenign
Select item 1248420	NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met)	DMXL2 (T417M +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 81 +3 more	GBenign
Select item 1242526	NM_001378457.1(DMXL2):c.8077-22C>T	DMXL2	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 71 +3 more	GBenign
Select item 1239392	NM_001378457.1(DMXL2):c.-36A>C	DMXL2	Single nucleotide variant (5 prime UTR variant +1 more)	Polyendocrine-polyneuropathy syndrome +3 more	GBenign
Select item 1234931	NM_001378457.1(DMXL2):c.6833+11del	DMXL2	Deletion (intron variant)	Developmental and epileptic encephalopathy, 81 +3 more	GBenign
Select item 1233890	NM_001378457.1(DMXL2):c.1346-39A>G	DMXL2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 81 +3 more	GBenign
Select item 1227653	NM_001378457.1(DMXL2):c.27A>G (p.Gly9=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 81 +3 more	GBenign
Select item 1178042	NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 81 +3 more	GBenign
Select item 1033359	NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr)	DMXL2, LOC126862131 (P2910T +6 more)	Single nucleotide variant (missense variant +1 more)	Polyendocrine-polyneuropathy syndrome	GUncertain significance
Select item 1030274	NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)	DMXL2 (K1594Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 782886	NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile)	DMXL2 (S1287I +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 71 +3 more	GBenign/Likely benign
Select item 715828	NM_001378457.1(DMXL2):c.7809-6del	DMXL2	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 161414	NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	DMXL2	Deletion (inframe_deletion +1 more)	See cases +2 more	GConflicting classifications of pathogenicity

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Items: 22