ClinVar for Gene (Select 7167) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362762	NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)	TPI1 (G151A +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 3337682	NM_000365.6(TPI1):c.265G>A (p.Ala89Thr)	TPI1 (A126T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328284	NM_000365.6(TPI1):c.667A>G (p.Ser223Gly)	TPI1 (S223G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328283	NM_000365.6(TPI1):c.79G>C (p.Gly27Arg)	TPI1 (G27R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181540	NM_000365.6(TPI1):c.130C>T (p.Pro44Ser)	TPI1 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065734	NM_000365.6(TPI1):c.32del (p.Gly11fs)	TPI1 (G11fs +1 more)	Deletion (frameshift variant)	Triosephosphate isomerase deficiency	GLikely pathogenic
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3052798	NM_000365.6(TPI1):c.248T>C (p.Met83Thr)	TPI1 (M120T +2 more)	Single nucleotide variant (missense variant +1 more)	TPI1-related disorder	GUncertain significance
Select item 3041165	NM_000365.6(TPI1):c.417C>T (p.Ile139=)	TPI1	Single nucleotide variant (synonymous variant)	TPI1-related disorder	GLikely benign
Select item 3023946	NM_000365.6(TPI1):c.342G>C (p.Val114=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009611	NM_000365.6(TPI1):c.324+1G>C	TPI1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2993755	NM_000365.6(TPI1):c.631+20G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986521	NM_000365.6(TPI1):c.528T>C (p.Thr176=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983293	NM_000365.6(TPI1):c.631+14G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917990	NM_000365.6(TPI1):c.714G>A (p.Lys238=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911597	NM_000365.6(TPI1):c.636T>A (p.Ser212=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889452	NM_000365.6(TPI1):c.543+7G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799109	NM_000365.6(TPI1):c.309T>C (p.Phe103=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793071	NM_000365.6(TPI1):c.325-12G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761011	NM_000365.6(TPI1):c.327G>T (p.Leu109=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700102	NM_000365.6(TPI1):c.457+7C>G	TPI1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2690256	NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)	TPI1 (R53Q +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2690255	NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)	TPI1 (T113S +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642641	NM_000365.6(TPI1):c.93G>C (p.Ala31=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2437194	NM_000365.6(TPI1):c.182C>T (p.Ala61Val)	TPI1 (A61V +1 more)	Single nucleotide variant (missense variant +1 more)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437193	NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)	TPI1 (W13R +1 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437192	NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)	TPI1 (K160E +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437191	NM_000365.6(TPI1):c.453C>G (p.Ile151Met)	TPI1 (I151M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437190	NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)	TPI1 (P143T +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2437189	NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)	TPI1 (A137P +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2399754	NM_000365.6(TPI1):c.434T>C (p.Phe145Ser)	TPI1 (F182S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284974	NM_000365.6(TPI1):c.477C>G (p.Ser159Arg)	TPI1 (S77R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269675	NM_000365.6(TPI1):c.292G>A (p.Glu98Lys)	TPI1 (E98K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268658	NM_000365.6(TPI1):c.269C>T (p.Thr90Met)	TPI1 (T8M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264814	NM_000365.6(TPI1):c.491C>A (p.Ala164Asp)	TPI1 (A164D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187406	NM_000365.6(TPI1):c.103C>G (p.Pro35Ala)	TPI1 (P72A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174398	NM_000365.6(TPI1):c.376G>A (p.Ala126Thr)	TPI1 (A163T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173077	NM_000365.6(TPI1):c.288C>T (p.His96=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132782	NM_000365.6(TPI1):c.433T>A (p.Phe145Ile)	TPI1 (F145I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131414	NM_000365.6(TPI1):c.73C>T (p.Leu25Phe)	TPI1 (L25F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127694	NM_000365.6(TPI1):c.63T>C (p.Ser21=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122853	NM_000365.6(TPI1):c.631+13G>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087700	NM_000365.6(TPI1):c.458-11C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063765	NM_000365.6(TPI1):c.366dup (p.Gly123fs)	TPI1 (G41fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2021749	NM_000365.6(TPI1):c.543+11C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018613	NM_000365.6(TPI1):c.744_747del (p.Lys248fs)	TPI1 (K166fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2009408	NM_000365.6(TPI1):c.239+20G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006220	NM_000365.6(TPI1):c.669C>A (p.Ser223Arg)	TPI1 (S141R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006180	NM_000365.6(TPI1):c.593C>T (p.Ser198Phe)	TPI1 (S116F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994826	NM_000365.6(TPI1):c.239+9G>C	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991230	NM_000365.6(TPI1):c.631+19C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963962	NM_000365.6(TPI1):c.8C>T (p.Pro3Leu)	TPI1 (P40L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939997	NM_000365.6(TPI1):c.157C>T (p.Arg53Trp)	TPI1 (R53W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932690	NM_000365.6(TPI1):c.115+13C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932379	NM_000365.6(TPI1):c.458-7C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931617	NM_000365.6(TPI1):c.204C>T (p.Tyr68=)	TPI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914973	NM_000365.6(TPI1):c.723C>T (p.Phe241=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907788	NM_000365.6(TPI1):c.154G>A (p.Ala52Thr)	TPI1 (A52T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903520	NM_000365.6(TPI1):c.588C>T (p.Asn196=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902015	NM_000365.6(TPI1):c.324+13G>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809736	NM_000365.6(TPI1):c.49G>A (p.Gly17Arg)	TPI1 (G17R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1717943	NM_000365.6(TPI1):c.713A>G (p.Lys238Arg)	TPI1 (K156R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698892	NM_000365.6(TPI1):c.544-1G>C	TPI1	Single nucleotide variant (splice acceptor variant)	Triosephosphate isomerase deficiency	GLikely pathogenic
Select item 1685182	NM_000365.6(TPI1):c.463G>A (p.Val155Met)	TPI1 (V155M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1673872	NM_000365.6(TPI1):c.453C>T (p.Ile151=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652923	NM_000365.6(TPI1):c.632-12C>T	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642638	NM_000365.6(TPI1):c.458-18del	TPI1	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1635278	NM_000365.6(TPI1):c.325-12_325-11del	TPI1	Deletion (intron variant)	not provided	GLikely benign
Select item 1584106	NM_000365.6(TPI1):c.458-9del	TPI1	Deletion (intron variant)	not provided	GLikely benign
Select item 1564028	NM_000365.6(TPI1):c.115+22del	LOC130007280, TPI1	Deletion (intron variant)	not provided	GBenign
Select item 1543011	NM_000365.6(TPI1):c.458-5T>C	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534620	NM_000365.6(TPI1):c.42G>A (p.Lys14=)	TPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1526032	NM_000365.6(TPI1):c.694G>A (p.Val232Met)	TPI1 (V150M +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency	GUncertain significance
Select item 1515555	NM_000365.6(TPI1):c.484G>A (p.Val162Ile)	TPI1 (V199I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514789	NM_000365.6(TPI1):c.613A>T (p.Thr205Ser)	TPI1 (T205S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1485685	NM_000365.6(TPI1):c.115+17G>T	LOC130007280, TPI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1432423	NM_000365.6(TPI1):c.730A>G (p.Ile244Val)	TPI1 (I281V +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GUncertain significance
Select item 1412215	NM_000365.6(TPI1):c.544-4C>G	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	ENO2, VAMP1 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1408609	NM_000365.6(TPI1):c.700G>A (p.Gly234Ser)	TPI1 (G152S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388563	NM_000365.6(TPI1):c.376G>T (p.Ala126Ser)	TPI1 (A44S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387320	NM_000365.6(TPI1):c.743A>G (p.Lys248Arg)	TPI1 (K166R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385541	NM_000365.6(TPI1):c.240-20G>A	TPI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374034	NC_000012.11:g.(?_6950452)_(6979547_?)dup	CDCA3, GNB3 +2 more	Duplication	not provided	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1366098	NM_000365.6(TPI1):c.564G>C (p.Lys188Asn)	TPI1 (K188N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357374	NM_000365.6(TPI1):c.426G>T (p.Lys142Asn)	TPI1 (K179N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346577	NM_000365.6(TPI1):c.616C>T (p.Arg206Cys)	TPI1 (R206C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330976	NM_000365.6(TPI1):c.-29C>G	TPI1 (T28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Triosephosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity

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