Related gene-specific medical variations for Gene (Select 90527) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274013	NM_207581.4(DUOXA2):c.817G>A (p.Val273Ile)	DUOXA1, DUOXA2 (H357Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086193	NM_207581.4(DUOXA2):c.821G>C (p.Arg274Pro)	DUOXA1, DUOXA2 (R274P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2645292	NM_001276266.2(DUOXA1):c.*1325G>T	DUOXA1, DUOXA2 (E351* +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2645291	NM_001276266.2(DUOXA1):c.*1446C>T	DUOXA1, DUOXA2 (P391L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2362330	NM_207581.4(DUOXA2):c.939A>T (p.Leu313Phe)	DUOXA1, DUOXA2 (L313F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245550	NM_001276266.2(DUOXA1):c.*1377G>C	DUOXA1, DUOXA2 (R368T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2244000	NM_001276266.2(DUOXA1):c.*1200C>A	DUOXA1, DUOXA2 (H385Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2243643	NM_001276266.2(DUOXA1):c.*1067C>A	DUOXA1, DUOXA2 +1 more (A341E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1230800	NM_001276266.2(DUOXA1):c.*1572G>C	DUOXA1, DUOXA2 (R433P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 726997	NM_207581.4(DUOXA2):c.831T>G (p.Ala277=)	DUOXA1, DUOXA2 (E397A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 720698	NM_207581.4(DUOXA2):c.893_894del (p.Leu298fs)	DUOXA1, DUOXA2 (L298fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 501495	NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?)	DUOXA1, DUOXA2 (H340fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 424181	NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs)	DUOXA1, DUOXA2 (C260fs +2 more)	Microsatellite (frameshift variant +1 more)	not specified +1 more	GUncertain significance