"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DUOXA1"[ge - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 547142	GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2	DUOX1, DUOX2 +3 more	Copy number loss	not provided	GLikely pathogenic

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