"GeneDx"[submitter] AND "PQBP1"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 1203191	NM_001032382.2(PQBP1):c.-150A>G	PQBP1, TIMM17B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1236832	NM_001032382.2(PQBP1):c.-19+15G>A	LOC130068255, PQBP1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 677296	NM_001032382.2(PQBP1):c.-19+125G>T	LOC130068255, PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314819	NM_001032382.2(PQBP1):c.28C>T (p.Arg10Cys)	LOC130068256, PQBP1 (R10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313256	NM_001032382.2(PQBP1):c.29G>T (p.Arg10Leu)	LOC130068256, PQBP1 (R10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663443	NM_001032382.2(PQBP1):c.62A>T (p.Glu21Val)	LOC130068256, PQBP1 (E21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233602	NM_001032382.2(PQBP1):c.67+78T>A	PQBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193517	NM_001032382.2(PQBP1):c.67+205C>A	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199732	NM_001032382.2(PQBP1):c.142C>G (p.Leu48Val)	PQBP1 (L48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1699646	NM_001032382.2(PQBP1):c.241C>T (p.Pro81Ser)	PQBP1 (P73S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 95310	NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 589632	NM_001032382.2(PQBP1):c.266C>T (p.Ala89Val)	PQBP1 (A89V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 669383	NM_001032382.2(PQBP1):c.292+6T>G	PQBP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2200796	NM_001032382.2(PQBP1):c.314G>A (p.Arg105Gln)	PQBP1 (R105Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326393	NM_001032382.2(PQBP1):c.334_354dup (p.Gly113_Arg119dup)	PQBP1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1801089	NM_001032382.2(PQBP1):c.342_383del (p.Ser120_Arg133del)	PQBP1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 378420	NM_001032382.2(PQBP1):c.356G>A (p.Arg119His)	PQBP1 (R119H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2442518	NM_001032382.2(PQBP1):c.374A>G (p.Asp125Gly)	PQBP1 (D117G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284597	NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])	PQBP1	Deletion (inframe_deletion +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 669031	NM_001032382.2(PQBP1):c.384C>T (p.His128=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1223518	NM_001032382.2(PQBP1):c.391T>C (p.Ser131Pro)	PQBP1 (S123P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1700493	NM_001032382.2(PQBP1):c.396C>G (p.Asp132Glu)	PQBP1 (D124E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +3 more	GConflicting classifications of pathogenicity
Select item 10979	NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)	PQBP1 (R147fs +1 more)	Microsatellite (frameshift variant +1 more)	Renpenning syndrome +1 more	GPathogenic
Select item 10980	NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	PQBP1 (R145fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3309615	NM_001032382.2(PQBP1):c.482G>A (p.Arg161Gln)	PQBP1 (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1326027	NM_001032382.2(PQBP1):c.488G>A (p.Arg163His)	PQBP1 (R155H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 282712	NM_001032382.2(PQBP1):c.492G>T (p.Gly164=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1311502	NM_001032382.2(PQBP1):c.502G>A (p.Ala168Thr)	PQBP1 (A160T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817349	NM_001032382.2(PQBP1):c.508del (p.Arg170fs)	PQBP1 (R162fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1185890	NM_001032382.2(PQBP1):c.510G>A (p.Arg170=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 2663334	NM_001032382.2(PQBP1):c.556C>T (p.Pro186Ser)	PQBP1 (P178S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312590	NM_001032382.2(PQBP1):c.575A>T (p.Lys192Met)	PQBP1 (K184M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199607	NM_001032382.2(PQBP1):c.577+25G>A	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234337	NM_001032382.2(PQBP1):c.578-44=	PQBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 545093	NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	PQBP1 (R196* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 423131	NM_001032382.2(PQBP1):c.623_624del (p.Ser208fs)	PQBP1 (S108fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 422848	NM_001032382.2(PQBP1):c.637_640dup (p.Arg214fs)	PQBP1 (R213fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1308367	NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)	PQBP1, SLC35A2 (R114W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 424138	NM_001032382.2(PQBP1):c.641+1G>A	PQBP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 871204	NC_000023.11:g.48902923G>A	PQBP1, SLC35A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1205338	NM_001032382.2(PQBP1):c.642G>A (p.Arg214=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 449822	NM_001032382.2(PQBP1):c.643G>C (p.Gly215Arg)	PQBP1 (G215R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331131	NC_000023.11:g.48902935T>C	PQBP1, SLC35A2 (W117R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663400	NC_000023.11:g.48902954A>G	PQBP1, SLC35A2 (K123R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663602	NM_001032382.2(PQBP1):c.690_746del (p.Asp232_Ala250del)	PQBP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 389921	NM_001032382.2(PQBP1):c.690C>T (p.Gly230=)	PQBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2442711	NC_000023.11:g.48903017C>G	PQBP1, SLC35A2 (P144R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422285	NM_001032382.2(PQBP1):c.738_742del (p.Ser247fs)	PQBP1 (S152fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 373334	NM_001032382.2(PQBP1):c.746G>A (p.Gly249Glu)	PQBP1 (G249E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1304107	NC_000023.11:g.48903044G>A	PQBP1, SLC35A2 (R153Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489131	NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter)	PQBP1 (R260* +4 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 95308	NM_001032382.2(PQBP1):c.*6C>T	PQBP1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 73