11834[HGNC] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2246877	NM_001064.4(TKT):c.1795G>C (p.Ala599Pro)	TKT (A599P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1690595	NM_001064.4(TKT):c.1793C>A (p.Pro598Gln)	TKT (P598Q +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 719636	NM_001064.4(TKT):c.1790A>G (p.Lys597Arg)	TKT (K597R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720422	NM_001064.4(TKT):c.1782A>G (p.Arg594=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3177701	NM_001064.4(TKT):c.1771C>T (p.Arg591Trp)	TKT (R591W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609647	NM_001064.4(TKT):c.1759C>A (p.Leu587Met)	TKT (L595M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177700	NM_001064.4(TKT):c.1745T>C (p.Ile582Thr)	TKT (I582T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518808	NM_001064.4(TKT):c.1717T>A (p.Ser573Thr)	TKT (S581T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342213	NM_001064.4(TKT):c.1697-49C>T	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 3177699	NM_001064.4(TKT):c.1691A>G (p.Tyr564Cys)	TKT (Y564C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341679	NM_001064.4(TKT):c.1649G>A (p.Arg550His)	TKT (R558H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441997	NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)	TKT (F535Y +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 2255834	NM_001064.4(TKT):c.1553C>T (p.Ala518Val)	LOC126806684, TKT (A526V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1033727	NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)	LOC126806684, TKT (E522K +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 773673	NM_001064.4(TKT):c.1539C>G (p.His513Gln)	LOC126806684, TKT (H513Q +1 more)	Single nucleotide variant (missense variant +1 more)	TKT-related disorder +1 more	GLikely benign
Select item 2285348	NM_001064.4(TKT):c.1520G>T (p.Gly507Val)	LOC126806684, TKT (G515V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343492	NM_001064.4(TKT):c.1513G>A (p.Val505Ile)	LOC126806684, TKT (V505I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323186	NM_001064.4(TKT):c.1480G>A (p.Val494Met)	LOC126806684, TKT (V494M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1308341	NM_001064.4(TKT):c.1468G>A (p.Gly490Arg)	LOC126806684, TKT (G490R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2285633	NM_001064.4(TKT):c.1412G>A (p.Arg471Gln)	LOC126806684, TKT (R471Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725159	NM_001064.4(TKT):c.1383C>G (p.Ala461=)	TKT, LOC126806684	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748504	NM_001064.4(TKT):c.1353C>T (p.Gly451=)	LOC126806684, TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789135	NM_001064.4(TKT):c.1306A>G (p.Met436Val)	LOC126806684, TKT (M436V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 717617	NM_001064.4(TKT):c.1284G>A (p.Gln428=)	LOC126806684, TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762214	NM_001064.4(TKT):c.1272C>T (p.Asp424=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1342214	NM_001064.4(TKT):c.1265-47G>C	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342215	NM_001064.4(TKT):c.1264+17T>C	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 2578053	NM_001064.4(TKT):c.1264+2T>C	TKT	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2407486	NM_001064.4(TKT):c.1255G>A (p.Val419Ile)	TKT (V419I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487381	NM_001064.4(TKT):c.1240G>A (p.Gly414Ser)	TKT (G422S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786880	NM_001064.4(TKT):c.1227C>T (p.Asn409=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3034663	NM_001064.4(TKT):c.1218C>T (p.Ser406=)	TKT	Single nucleotide variant (synonymous variant +1 more)	TKT-related disorder	GLikely benign
Select item 717183	NM_001064.4(TKT):c.1209C>G (p.Ala403=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1319301	NM_001064.4(TKT):c.1177T>C (p.Phe393Leu)	TKT (F393L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 756024	NM_001064.4(TKT):c.1170A>G (p.Ala390=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2441738	NM_001064.4(TKT):c.1136G>A (p.Arg379His)	TKT (R379H +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GUncertain significance
Select item 2226607	NM_001064.4(TKT):c.1090A>G (p.Ile364Val)	TKT (I364V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040262	NM_001064.4(TKT):c.1080C>T (p.Ile360=)	TKT	Single nucleotide variant (synonymous variant +1 more)	TKT-related disorder	GLikely benign
Select item 3063759	NM_001064.4(TKT):c.1016_1019dup (p.Asp341fs)	TKT (D341fs +1 more)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 223091	NM_001064.4(TKT):c.952C>T (p.Arg318Cys)	TKT (R318C +1 more)	Single nucleotide variant (missense variant +1 more)	Transketolase deficiency	GPathogenic
Select item 446066	NM_001064.4(TKT):c.898A>C (p.Asn300His)	TKT (N300H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2339018	NM_001064.4(TKT):c.871G>A (p.Glu291Lys)	TKT (E299K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709852	NM_001064.4(TKT):c.848A>T (p.Lys283Met)	TKT (K283M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2511127	NM_001064.4(TKT):c.839G>A (p.Ser280Asn)	TKT (S288N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594097	NM_001064.4(TKT):c.805C>A (p.Gln269Lys)	TKT (Q269K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311359	NM_001064.4(TKT):c.798G>T (p.Met266Ile)	TKT (M266I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 243092	NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	TKT	Insertion (inframe_indel +1 more)	Transketolase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3177705	NM_001064.4(TKT):c.763G>C (p.Glu255Gln)	TKT (E263Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342216	NM_001064.4(TKT):c.749-15G>A	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342217	NM_001064.4(TKT):c.748+39C>G	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 1342218	NM_001064.4(TKT):c.748+17C>T	TKT	Single nucleotide variant (intron variant)	Transketolase deficiency	GBenign
Select item 774421	NM_001064.4(TKT):c.737G>A (p.Arg246Gln)	TKT (R254Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3058283	NM_001064.4(TKT):c.639C>T (p.Ala213=)	TKT	Single nucleotide variant (synonymous variant +1 more)	TKT-related disorder	GLikely benign
Select item 223089	NM_001064.4(TKT):c.633G>A (p.Trp211Ter)	TKT (W211* +1 more)	Single nucleotide variant (nonsense +1 more)	Transketolase deficiency	GPathogenic
Select item 712986	NM_001064.4(TKT):c.630-9T>C	TKT	Single nucleotide variant (intron variant)	TKT-related disorder +1 more	GLikely benign
Select item 751506	NM_001064.4(TKT):c.629+9G>A	TKT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3177704	NM_001064.4(TKT):c.618C>T (p.Cys206=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 774422	NM_001064.4(TKT):c.600C>A (p.Asp200Glu)	TKT (D208E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1263760	NM_001064.4(TKT):c.582A>G (p.Pro194=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3177703	NM_001064.4(TKT):c.581C>T (p.Pro194Leu)	TKT (P194L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035207	NM_001064.4(TKT):c.576G>A (p.Pro192=)	TKT	Single nucleotide variant (synonymous variant +1 more)	TKT-related disorder	GLikely benign
Select item 1312183	NM_001064.4(TKT):c.575C>T (p.Pro192Leu)	TKT (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 777965	NM_001064.4(TKT):c.541A>G (p.Ile181Val)	TKT (I189V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1243940	NM_001064.4(TKT):c.465C>T (p.Asp155=)	TKT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2375610	NM_001064.4(TKT):c.430A>G (p.Lys144Glu)	TKT (K144E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307694	NM_001064.4(TKT):c.424T>G (p.Phe142Val)	TKT (F142V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778085	NM_001064.4(TKT):c.393C>T (p.Ala131=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748799	NM_001064.4(TKT):c.354C>T (p.Thr118=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 445900	NM_001064.4(TKT):c.339+3A>C	TKT	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2354557	NM_001064.4(TKT):c.316G>T (p.Asp106Tyr)	TKT (D106Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362048	NM_001064.4(TKT):c.293T>C (p.Leu98Pro)	TKT (L98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177702	NM_001064.4(TKT):c.284C>T (p.Ala95Val)	TKT (A95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054145	NM_001064.4(TKT):c.280G>A (p.Glu94Lys)	TKT (E94K)	Single nucleotide variant (missense variant +1 more)	TKT-related disorder	GUncertain significance
Select item 3235058	NM_001064.4(TKT):c.181C>T (p.Gln61Ter)	TKT (Q61*)	Single nucleotide variant (nonsense +1 more)	Transketolase deficiency	GLikely pathogenic
Select item 2588194	NM_001064.4(TKT):c.179C>T (p.Ser60Phe)	TKT (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547983	NM_001064.4(TKT):c.169C>T (p.Arg57Cys)	TKT (R57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748013	NM_001064.4(TKT):c.129C>T (p.Ser43=)	TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2409592	NM_001064.4(TKT):c.84G>T (p.Gln28His)	LOC129936902, TKT (Q28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739940	NM_001064.4(TKT):c.81C>T (p.Ile27=)	LOC129936902, TKT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380978	NM_001064.4(TKT):c.73A>G (p.Ser25Gly)	LOC129936902, TKT (S25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521567	NM_001064.4(TKT):c.52A>G (p.Thr18Ala)	LOC129936902, TKT (T18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 1808546	GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808533	GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527019	GRCh37/hg19 3p21.1(chr3:52968525-53450333)	DCP1A, PRKCD +3 more	Copy number gain	not specified	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 92