C0282527[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 371747	NM_000466.3(PEX1):c.2723del (p.Pro908fs)	PEX1 (P908fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371721	NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)	PEX1 (R896* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371702	NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)	PEX1 (Q873* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 188873	NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	PEX1 (R795* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 371742	NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)	PEX1 (L513fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371699	NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)	PEX1 (Q713* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371692	NM_000466.3(PEX1):c.2034_2035del (p.His678fs)	PEX1 (H470fs +1 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 7517	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	PEX1 (L664P +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1B +4 more	GLikely pathogenic
Select item 371723	NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)	PEX1 (V450fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371780	NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)	PEX1 (K642fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371693	NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)	PEX1 (Q641* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371713	NM_000466.3(PEX1):c.1908del (p.Arg636fs)	PEX1 (R636fs +1 more)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 371703	NM_000466.3(PEX1):c.1842del (p.Glu615fs)	PEX1 (E407fs +1 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 371726	NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)	PEX1 (G589* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 188984	NM_000466.3(PEX1):c.1716_1717del (p.His572fs)	PEX1 (H364fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371753	NM_000466.3(PEX1):c.1670+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +2 more	GLikely pathogenic
Select item 371727	NM_000466.3(PEX1):c.1670+1G>T	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371701	NM_000466.3(PEX1):c.1587+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GLikely pathogenic
Select item 371690	NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)	PEX1 (E510* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371739	NM_000466.3(PEX1):c.1527del (p.Glu510fs)	PEX1 (E510fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1 +2 more	GLikely pathogenic
Select item 371689	NM_000466.3(PEX1):c.1522dup (p.Glu508fs)	PEX1 (E508fs +1 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 371767	NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)	PEX1	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 286796	NM_000466.3(PEX1):c.1131del (p.Asp378fs)	PEX1 (D378fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 371779	NM_000466.3(PEX1):c.1108del (p.Ile370fs)	PEX1 (I370fs +1 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 371694	NM_000466.3(PEX1):c.1076del (p.Lys359fs)	PEX1 (K359fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 371725	NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)	PEX1 (K151fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371751	NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)	PEX1	Microsatellite (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 188910	NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	PEX1 (Q261fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 371769	NM_000466.3(PEX1):c.734del (p.Leu245fs)	PEX1 (L245fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371782	NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)	PEX1 (R183*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +4 more	GPathogenic/Likely pathogenic
Select item 552880	NM_000466.3(PEX1):c.472+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371752	NM_000466.3(PEX1):c.431dup (p.Val145fs)	PEX1 (V145fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371714	NM_000466.3(PEX1):c.358-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 554482	NM_000466.3(PEX1):c.358-2A>C	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GLikely pathogenic
Select item 371743	NM_000466.3(PEX1):c.358-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371724	NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)	PEX1 (W116*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 558237	NM_000466.3(PEX1):c.273+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 371711	NM_000466.3(PEX1):c.130-1G>C	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 371746	NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	LOC129998796, PEX1 (M1T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic
Select item 371688	NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	LOC129998796, PEX1 (M1R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 371744	NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	LOC129998796, PEX1 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic

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Items: 56