C3550693[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556362	NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)	PEX12 (P357fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 556045	NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)	PEX12 (Q349del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 555446	NM_000286.3(PEX12):c.1023del (p.Thr342fs)	PEX12 (T342fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 451464	NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	PEX12 (Q337*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GConflicting classifications of pathogenicity
Select item 557980	NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	PEX12 (F330fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 552325	NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)	PEX12 (Y326*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 558619	NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	PEX12 (G321fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 7779	NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)	PEX12 (L317F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 92777	NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)	PEX12	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +2 more	GPathogenic/Likely pathogenic
Select item 552385	NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)	PEX12	Deletion (inframe_deletion)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 551557	NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)	PEX12 (W263*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 550582	NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)	PEX12	Deletion (inframe_indel)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 553270	NM_000286.3(PEX12):c.781del (p.Asp262fs)	PEX12 (D262fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 553650	NM_000286.3(PEX12):c.771del (p.Leu258fs)	PEX12 (L258fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 553741	NM_000286.3(PEX12):c.744dup (p.Thr249fs)	PEX12 (T249fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371737	NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)	PEX12 (L245fs)	Duplication (frameshift variant)	PEX12-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 552278	NM_000286.3(PEX12):c.687_690del (p.Ser229fs)	PEX12 (S229fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 371738	NM_000286.3(PEX12):c.684_687del (p.Ser229fs)	PEX12 (S229fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 558363	NM_000286.3(PEX12):c.680+1G>A	PEX12	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 552699	NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)	PEX12 (Q222*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GLikely pathogenic
Select item 556886	NM_000286.3(PEX12):c.644del (p.Pro215fs)	PEX12 (P215fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 555548	NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	PEX12 (Q209*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 551647	NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	PEX12 (R202*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic
Select item 7774	NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	PEX12 (R180*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GPathogenic
Select item 437449	NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)	PEX12 (Q178del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 551612	NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)	PEX12 (R154*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 552799	NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)	PEX12	Inversion (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 553959	NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)	PEX12	Deletion (inframe_deletion)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 377276	NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)	PEX12 (L123del)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 322653	NM_000286.3(PEX12):c.353T>C (p.Met118Thr)	PEX12 (M118T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 283389	NM_000286.3(PEX12):c.349A>G (p.Ile117Val)	PEX12 (I117V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +3 more	GUncertain significance
Select item 191074	NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	PEX12 (Q112*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 501646	NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	PEX12 (K90fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 550148	NM_000286.3(PEX12):c.223_224del (p.Leu75fs)	PEX12 (L75fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 554388	NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)	PEX12 (Y74*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 551127	NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	PEX12 (Q71*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 548532	NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)	PEX12 (L70del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GUncertain significance
Select item 553579	NM_000286.3(PEX12):c.190_194del (p.Thr64fs)	PEX12 (T64fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 550849	NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)	PEX12	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 555306	NM_000286.3(PEX12):c.126+2T>A	PEX12	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 556965	NM_000286.3(PEX12):c.88_89del (p.Met30fs)	PEX12 (M30fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 553017	NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)	PEX12	Duplication (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 550907	NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)	PEX12 (Q17*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 556466	NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)	PEX12	Deletion (inframe_deletion)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 556743	NM_000286.3(PEX12):c.1_2del (p.Met1fs)	PEX12 (M1fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 167450	NM_000286.3(PEX12):c.-26G>A	PEX12	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder type 3B +2 more	GUncertain significance

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Items: 46