"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1006800	NM_007348.4(ATF6):c.77A>G (p.Asp26Gly)	ATF6 (D26G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839000	NM_007348.4(ATF6):c.326A>G (p.Asp109Gly)	ATF6 (D109G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800907	NM_007348.4(ATF6):c.511del (p.Ile171fs)	ATF6 (I171fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250322	NM_007348.4(ATF6):c.1006G>A (p.Ala336Thr)	ATF6 (A336T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250226	NM_007348.4(ATF6):c.1461_1475del (p.His488_Val492del)	ATF6	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 3250227	NM_007348.4(ATF6):c.1485dup (p.Lys496fs)	ATF6 (K496fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248830	NM_007348.4(ATF6):c.1954C>G (p.Pro652Ala)	ATF6 (P651A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250296	NM_007348.4(ATF6):c.2002T>C (p.Ser668Pro)	ATF6 (S667P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

ClinVar