ClinVar for Gene (Select 10084) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353527	NM_001032382.2(PQBP1):c.466G>A (p.Asp156Asn)	PQBP1 (D148N +1 more)	Single nucleotide variant (missense variant +1 more)	PQBP1-related disorder	GUncertain significance
Select item 3348560	NM_001032382.2(PQBP1):c.379G>A (p.Gly127Ser)	PQBP1 (G119S +1 more)	Single nucleotide variant (missense variant +1 more)	PQBP1-related disorder	GUncertain significance
Select item 3345851	NM_001032382.2(PQBP1):c.430C>T (p.Arg144Cys)	PQBP1 (R136C +1 more)	Single nucleotide variant (missense variant +1 more)	PQBP1-related disorder	GUncertain significance
Select item 3341318	NM_001032382.2(PQBP1):c.488G>T (p.Arg163Leu)	PQBP1 (R155L +1 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome	GUncertain significance
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 3309614	NM_001032382.2(PQBP1):c.272A>T (p.Lys91Met)	PQBP1 (K91M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309613	NM_001032382.2(PQBP1):c.115G>A (p.Asp39Asn)	PQBP1 (D39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3309612	NM_001032382.2(PQBP1):c.335G>T (p.Arg112Met)	PQBP1 (R104M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3220899	NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)	PQBP1 (R126fs +1 more)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3027359	NM_001032382.2(PQBP1):c.697A>G (p.Thr233Ala)	PQBP1 (T133A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006808	NM_001032382.2(PQBP1):c.489C>G (p.Arg163=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2977880	NM_001032382.2(PQBP1):c.550C>T (p.Leu184=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970295	NM_001032382.2(PQBP1):c.180-11C>T	PQBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2911231	NM_001032382.2(PQBP1):c.53A>G (p.Lys18Arg)	LOC130068256, PQBP1 (K18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875379	NM_001032382.2(PQBP1):c.577+10G>A	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870279	NM_001032382.2(PQBP1):c.179+11G>A	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823822	NM_001032382.2(PQBP1):c.179+19dup	PQBP1	Duplication (intron variant)	not provided	GBenign
Select item 2818427	NM_001032382.2(PQBP1):c.59T>A (p.Leu20Gln)	LOC130068256, PQBP1 (L20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786791	NM_001032382.2(PQBP1):c.670C>T (p.Arg224Trp)	PQBP1 (R216W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772732	NM_001032382.2(PQBP1):c.642-6C>T	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757381	NM_001032382.2(PQBP1):c.528G>A (p.Arg176=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2741925	NM_001032382.2(PQBP1):c.393_413dup (p.Arg140_Asp141insGlyHisAspLysSerAspArg)	PQBP1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2706546	NM_001032382.2(PQBP1):c.627C>A (p.Tyr209Ter)	PQBP1 (Y109* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
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 2663602	NM_001032382.2(PQBP1):c.690_746del (p.Asp232_Ala250del)	PQBP1	Deletion (inframe_deletion)	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 2663400	NC_000023.11:g.48902954A>G	PQBP1, SLC35A2 (K123R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2660483	NM_001032382.2(PQBP1):c.99T>C (p.Tyr33=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637230	NM_001032382.2(PQBP1):c.490G>A (p.Gly164Arg)	PQBP1 (G156R +1 more)	Single nucleotide variant (missense variant +1 more)	PQBP1-related disorder	GUncertain significance
Select item 2581219	NM_001032382.2(PQBP1):c.641+13C>T	PQBP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2538156	NM_001032382.2(PQBP1):c.68A>C (p.Glu23Ala)	PQBP1 (E23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530587	NM_001032382.2(PQBP1):c.434G>A (p.Gly145Asp)	PQBP1 (G137D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	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 2442711	NC_000023.11:g.48903017C>G	PQBP1, SLC35A2 (P144R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2420445	NM_001032382.2(PQBP1):c.293-12T>C	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2330018	NM_001032382.2(PQBP1):c.460G>A (p.Glu154Lys)	PQBP1 (E146K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278470	NM_001032382.2(PQBP1):c.161A>T (p.Lys54Met)	PQBP1 (K54M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200905	NM_001032382.2(PQBP1):c.60G>C (p.Leu20=)	LOC130068256, PQBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2191509	NM_001032382.2(PQBP1):c.526C>T (p.Arg176Trp)	PQBP1 (R168W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185250	NM_001032382.2(PQBP1):c.777C>A (p.Ser259=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160991	NM_001032382.2(PQBP1):c.120C>T (p.Tyr40=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112360	NM_001032382.2(PQBP1):c.398G>A (p.Arg133Gln)	PQBP1 (R125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071011	NM_001032382.2(PQBP1):c.543G>A (p.Arg181=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065525	NM_001032382.2(PQBP1):c.263C>T (p.Ser88Leu)	PQBP1 (S88L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064588	NM_001032382.2(PQBP1):c.180C>T (p.Cys60=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2042420	NM_001032382.2(PQBP1):c.300A>G (p.Glu100=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2029519	NM_001032382.2(PQBP1):c.293-5C>T	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026133	NM_001032382.2(PQBP1):c.24G>T (p.Gln8His)	LOC130068256, PQBP1 (Q8H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016040	NM_001032382.2(PQBP1):c.642-15C>G	PQBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971354	NM_001032382.2(PQBP1):c.355C>T (p.Arg119Cys)	PQBP1 (R111C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967510	NM_001032382.2(PQBP1):c.67+15A>T	LOC130068256, PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959885	NM_001032382.2(PQBP1):c.529C>T (p.Arg177Cys)	PQBP1 (R177C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1957313	NM_001032382.2(PQBP1):c.542G>A (p.Arg181Gln)	PQBP1 (R181Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949056	NM_001032382.2(PQBP1):c.459A>C (p.Arg153Ser)	PQBP1 (R145S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
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 1801089	NM_001032382.2(PQBP1):c.342_383del (p.Ser120_Arg133del)	PQBP1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1758367	NM_001032382.2(PQBP1):c.732G>A (p.Pro244=)	PQBP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1730067	NM_001032382.2(PQBP1):c.330G>A (p.Ser110=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 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 1691229	NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)	PQBP1 (K184fs +2 more)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 1690988	NM_001032382.2(PQBP1):c.784A>C (p.Lys262Gln)	PQBP1 (K162Q +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1684266	NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs)	PQBP1 (S59fs)	Deletion (frameshift variant +1 more)	Renpenning syndrome	GPathogenic
Select item 1539459	NM_001032382.2(PQBP1):c.641+19T>C	PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527945	NM_001032382.2(PQBP1):c.530G>A (p.Arg177His)	PQBP1 (R169H +2 more)	Single nucleotide variant (missense variant +1 more)	PQBP1-related disorder +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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
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 1331131	NC_000023.11:g.48902935T>C	PQBP1, SLC35A2 (W117R +4 more)	Single nucleotide variant (missense variant)	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 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 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 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

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