"Counsyl"[submitter] AND "GATAD1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555569	NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)	GATAD1, PEX1 (R1275* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +2 more	GUncertain significance
Select item 555409	NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)	GATAD1, PEX1 (S1062fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 558733	NM_000466.3(PEX1):c.3768-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 552961	NM_000466.3(PEX1):c.3768-2A>T	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 556432	NM_000466.3(PEX1):c.3767+1_3767+2dup	GATAD1, PEX1	Duplication (splice donor variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 554198	NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)	PEX1, GATAD1 (S1246fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 557382	NM_000466.3(PEX1):c.3626del (p.Ser1209fs)	GATAD1, PEX1 (S1001fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 555854	NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)	PEX1, GATAD1 (D1137fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 371698	NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	GATAD1, PEX1 (Q1192* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 371715	NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)	GATAD1, PEX1 (E1183* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 555041	NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)	GATAD1, PEX1 (A1096fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 371774	NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)	GATAD1, PEX1 (S1152fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 557541	NM_000466.3(PEX1):c.3438+1G>T	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 553099	NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)	PEX1, GATAD1	Deletion (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 371756	NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)	GATAD1, PEX1 (L1024fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 558452	NM_000466.3(PEX1):c.3207+2C>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 555373	NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)	GATAD1, PEX1	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	PEX1, GATAD1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 551650	NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	GATAD1, PEX1 (R1013H +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 495880	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	GATAD1, PEX1 (R998* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 371784	NM_000466.3(PEX1):c.2927-2A>G	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 189002	NM_000466.3(PEX1):c.2926+2T>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 371696	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	PEX1, GATAD1 (L917fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +3 more	GPathogenic/Likely pathogenic
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 371716	NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	GATAD1, PEX1 (R959* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371706	NM_000466.3(PEX1):c.2859dup (p.Thr954fs)	GATAD1, PEX1 (T746fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 558383	NM_000466.3(PEX1):c.2852dup (p.His951fs)	GATAD1, PEX1 (H743fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 556176	NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	GATAD1, PEX1 (R949Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 441031	NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)	GATAD1, PEX1 (R948Q +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 556417	NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)	PEX1, GATAD1 (D940del +2 more)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 371720	NM_000466.3(PEX1):c.2798dup (p.Pro934fs)	GATAD1, PEX1 (P934fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic

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Items: 33