ClinVar for MedGen (Select 208670) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663820	NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)	PQBP1 (R145del +1 more)	Deletion (inframe_deletion +1 more)	Renpenning syndrome	GPathogenic
Select item 2443062	NM_001032382.2(PQBP1):c.721del (p.Gln241fs)	PQBP1 (Q141fs +4 more)	Deletion (frameshift variant)	Renpenning syndrome	GLikely pathogenic
Select item 2435234	NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)	PQBP1 (R136H +1 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome	GUncertain significance
Select item 1802539	NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)	PQBP1 (P70Q +1 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome	GLikely pathogenic
Select item 1691229	NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)	PQBP1 (K184fs +2 more)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 1684266	NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs)	PQBP1 (S59fs)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 1527945	NM_001032382.2(PQBP1):c.530G>A (p.Arg177His)	PQBP1 (R169H +2 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome +1 more	GUncertain significance
Select item 1517778	NM_001032382.2(PQBP1):c.292+1G>A	PQBP1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333417	NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg)	PQBP1 (P148R +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome	GUncertain significance
Select item 1308367	NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)	PQBP1, SLC35A2 (R114W +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome +1 more	GUncertain significance
Select item 1031571	NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln)	PQBP1 (R129Q +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome	GUncertain significance
Select item 1030959	NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)	LOC130068256, PQBP1 (L11S)	Single nucleotide variant (missense variant)	Renpenning syndrome	GLikely pathogenic
Select item 998089	NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp)	PQBP1 (R105W +1 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome	GUncertain significance
Select item 988712	NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp)	PQBP1 (R162W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986233	NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp)	PQBP1 (R118W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 982820	NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln)	PQBP1 (R143Q +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome	GUncertain significance
Select item 977914	NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)	PQBP1 (R143W +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 977747	NM_001032382.2(PQBP1):c.180-306G>A	PQBP1	Single nucleotide variant (intron variant)	Renpenning syndrome	GUncertain significance
Select item 931434	NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)	PQBP1 (S208* +4 more)	Single nucleotide variant (nonsense)	Renpenning syndrome	GLikely pathogenic
Select item 930267	NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)	PQBP1 (R159W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 914802	NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)	PQBP1	Single nucleotide variant (synonymous variant)	Renpenning syndrome	GBenign
Select item 912841	NM_001032382.2(PQBP1):c.*8G>A	PQBP1	Single nucleotide variant (3 prime UTR variant)	Renpenning syndrome	GUncertain significance
Select item 912840	NM_001032382.2(PQBP1):c.*3C>T	PQBP1	Single nucleotide variant (3 prime UTR variant)	Renpenning syndrome	GBenign
Select item 912839	NM_001032382.2(PQBP1):c.642-9C>A	PQBP1	Single nucleotide variant (intron variant)	Renpenning syndrome +1 more	GConflicting classifications of pathogenicity
Select item 912838	NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Renpenning syndrome	GBenign
Select item 816841	NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	PQBP1 (R147* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 807471	NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs)	PQBP1 (E100fs +4 more)	Microsatellite (frameshift variant)	Renpenning syndrome	GPathogenic
Select item 590224	NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)	PQBP1 (K262E +4 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +1 more	GUncertain significance
Select item 561092	NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)	PQBP1 (R181W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 547755	NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)	PQBP1 (R133W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 545093	NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	PQBP1 (R196* +4 more)	Single nucleotide variant (nonsense)	Renpenning syndrome +2 more	GPathogenic/Likely pathogenic
Select item 368453	NM_001032382.2(PQBP1):c.585C>T (p.Ser195=)	PQBP1	Single nucleotide variant (synonymous variant)	PQBP1-related condition +2 more	GBenign/Likely benign
Select item 368452	NM_001032382.2(PQBP1):c.-18-69C>T	LOC130068256, PQBP1	Single nucleotide variant (intron variant +1 more)	Renpenning syndrome	GBenign
Select item 368451	NM_001032382.2(PQBP1):c.-18-196A>G	LOC130068255, PQBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Renpenning syndrome	GUncertain significance
Select item 95310	NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 95309	NM_001032382.2(PQBP1):c.180-3C>T	PQBP1	Single nucleotide variant (intron variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 10985	NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys)	PQBP1 (Y65C +1 more)	Single nucleotide variant (missense variant)	Renpenning syndrome	GPathogenic
Select item 10984	NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)	PQBP1	Deletion (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 10983	NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs)	PQBP1 (E183fs +2 more)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 10982	NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)	PQBP1 (R114fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 10981	NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs)	PQBP1 (E154fs +1 more)	Microsatellite (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 10980	NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	PQBP1 (R145fs +1 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 10979	NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)	PQBP1 (R147fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic

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Items: 43