"Baylor Genetics"[submitter] AND "GATAD1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677634	NM_000466.3(PEX1):c.3716dup (p.His1240fs)	GATAD1, PEX1 (H1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
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 2677603	NM_000466.3(PEX1):c.3695C>G (p.Ser1232Ter)	PEX1, GATAD1 (S1024* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677610	NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)	GATAD1, PEX1 (Q1023* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 3240075	NM_000466.3(PEX1):c.3657_3658del (p.Gln1219fs)	GATAD1, PEX1 (Q1011fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 1903562	NM_000466.3(PEX1):c.3637-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely 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 813402	NM_000466.3(PEX1):c.3573del (p.Glu1191fs)	GATAD1, PEX1 (E1134fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 2677623	NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)	GATAD1, PEX1 (L1120fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 2677617	NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)	GATAD1, PEX1 (Q1112* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677632	NM_000466.3(PEX1):c.3488del (p.Gly1163fs)	GATAD1, PEX1 (G1106fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	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 1070573	NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)	GATAD1, PEX1 (C1093* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic
Select item 2677638	NM_000466.3(PEX1):c.3439-1G>T	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 360915	NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	GATAD1, PEX1 (M1125L +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 3240077	NM_000466.3(PEX1):c.3336del (p.Met1113fs)	GATAD1, PEX1 (M1056fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 817583	NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)	GATAD1, PEX1	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287046	NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	GATAD1, PEX1 (C1045fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 3240076	NM_000466.3(PEX1):c.3235dup (p.Leu1079fs)	GATAD1, PEX1 (L1022fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	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 1066589	NM_000466.3(PEX1):c.3207+1G>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 561079	NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)	GATAD1, PEX1 (Q1069* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +2 more	GPathogenic
Select item 928943	NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)	GATAD1, PEX1 (G1061fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic
Select item 2677631	NM_000466.3(PEX1):c.3169G>T (p.Glu1057Ter)	GATAD1, PEX1 (E1000* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 591802	NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	GATAD1, PEX1 (T831fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1946654	NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)	GATAD1, PEX1 (L1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
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 861041	NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)	GATAD1, PEX1 (L967fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
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 1069047	NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	GATAD1, PEX1 (R1013C +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 2134256	NM_000466.3(PEX1):c.3031-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 2677604	NM_000466.3(PEX1):c.3030+1del	GATAD1, PEX1	Deletion (splice donor variant)	Heimler syndrome 1	GLikely pathogenic
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 224325	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	GATAD1, PEX1 (I989T +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +6 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 188729	NM_000466.3(PEX1):c.2926+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 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 1065420	NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)	GATAD1, PEX1 (D750fs +2 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GConflicting classifications of pathogenicity
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 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 580960	NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	GATAD1, PEX1 (R949W +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 2677641	NM_000466.3(PEX1):c.2835_2841del (p.Ala946fs)	GATAD1, PEX1 (A738fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
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
Select item 2085739	NM_000466.3(PEX1):c.2784-1G>C	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1 +1 more	GLikely pathogenic

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Items: 48