"Genome-Nilou Lab"[submitter] AND "DMXL2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1255508	NM_001378457.1(DMXL2):c.7520+35del	DMXL2	Deletion (intron variant)	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 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 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 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 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 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 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 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 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 1239392	NM_001378457.1(DMXL2):c.-36A>C	DMXL2	Single nucleotide variant (5 prime UTR variant +1 more)	Polyendocrine-polyneuropathy syndrome +3 more	GBenign