24552[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2556422	NM_015533.4(TKFC):c.43G>A (p.Asp15Asn)	TKFC (D15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248785	NM_015533.4(TKFC):c.103C>T (p.Arg35Cys)	TKFC (R35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466066	NM_015533.4(TKFC):c.104G>T (p.Arg35Leu)	TKFC (R35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065703	NM_015533.4(TKFC):c.129_130del (p.Asp43fs)	TKFC (D43fs)	Deletion (frameshift variant +1 more)	Triokinase and FMN cyclase deficiency syndrome	GUncertain significance
Select item 2520746	NM_015533.4(TKFC):c.167G>T (p.Gly56Val)	TKFC (G56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1255449	NM_015533.4(TKFC):c.194-13C>T	TKFC	Single nucleotide variant (intron variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 3177687	NM_015533.4(TKFC):c.194G>A (p.Gly65Asp)	TKFC (G65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614099	NM_015533.4(TKFC):c.205A>G (p.Lys69Glu)	TKFC (K69E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335071	NM_015533.4(TKFC):c.297C>T (p.Ala99=)	TKFC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516628	NM_015533.4(TKFC):c.311C>T (p.Thr104Met)	TKFC (T104M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552578	NM_015533.4(TKFC):c.319A>C (p.Ile107Leu)	TKFC (I107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177689	NM_015533.4(TKFC):c.327G>C (p.Lys109Asn)	TKFC (K39N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578659	NM_015533.4(TKFC):c.344G>A (p.Arg115Gln)	TKFC (R115Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3177690	NM_015533.4(TKFC):c.377G>A (p.Arg126Gln)	TKFC (R126Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177691	NM_015533.4(TKFC):c.451C>T (p.Arg151Trp)	TKFC (R81W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177692	NM_015533.4(TKFC):c.452G>A (p.Arg151Gln)	TKFC (R81Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569623	NM_015533.4(TKFC):c.466G>A (p.Gly156Ser)	TKFC (G86S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255450	NM_015533.4(TKFC):c.471G>C (p.Thr157=)	TKFC	Single nucleotide variant (synonymous variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 2272755	NM_015533.4(TKFC):c.472G>C (p.Val158Leu)	TKFC (V88L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177693	NM_015533.4(TKFC):c.532G>A (p.Ala178Thr)	TKFC (A108T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1255451	NM_015533.4(TKFC):c.553G>A (p.Ala185Thr)	TKFC (A115T +1 more)	Single nucleotide variant (missense variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 2641824	NM_015533.4(TKFC):c.576G>A (p.Gly192=)	TKFC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2235626	NM_015533.4(TKFC):c.638A>T (p.Glu213Val)	TKFC (E143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177694	NM_015533.4(TKFC):c.658A>T (p.Ile220Phe)	TKFC (I220F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562248	NM_015533.4(TKFC):c.664G>A (p.Gly222Arg)	TKFC (G152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381531	NM_015533.4(TKFC):c.680G>A (p.Arg227His)	TKFC (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177695	NM_015533.4(TKFC):c.727G>A (p.Asp243Asn)	TKFC (D243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308145	NM_015533.4(TKFC):c.735G>A (p.Met245Ile)	TKFC (M175I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177696	NM_015533.4(TKFC):c.745A>G (p.Thr249Ala)	TKFC (T179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358414	NM_015533.4(TKFC):c.770A>C (p.Gln257Pro)	TKFC (Q187P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255452	NM_015533.4(TKFC):c.775+39A>C	TKFC	Single nucleotide variant (intron variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 2558282	NM_015533.4(TKFC):c.830T>C (p.Leu277Pro)	TKFC (L277P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177697	NM_015533.4(TKFC):c.844G>A (p.Asp282Asn)	TKFC (D212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177698	NM_015533.4(TKFC):c.857G>A (p.Arg286His)	TKFC (R216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614100	NM_015533.4(TKFC):c.874G>A (p.Gly292Arg)	TKFC (G292R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556656	NM_015533.4(TKFC):c.889C>T (p.Arg297Cys)	TKFC (R227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216488	NM_015533.4(TKFC):c.890G>A (p.Arg297His)	TKFC (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282429	NM_015533.4(TKFC):c.940C>G (p.Leu314Val)	TKFC (L244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372379	NM_015533.4(TKFC):c.961G>A (p.Glu321Lys)	TKFC (E251K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544345	NM_015533.4(TKFC):c.1034C>T (p.Thr345Ile)	TKFC (T275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369490	NM_015533.4(TKFC):c.1036G>A (p.Gly346Arg)	TKFC (G346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177680	NM_015533.4(TKFC):c.1046G>A (p.Arg349Gln)	TKFC (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177681	NM_015533.4(TKFC):c.1088C>A (p.Ser363Tyr)	TKFC (S293Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599637	NM_015533.4(TKFC):c.1112C>T (p.Ser371Leu)	TKFC (S301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242174	NM_015533.4(TKFC):c.1150A>G (p.Thr384Ala)	TKFC (T384A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371668	NM_015533.4(TKFC):c.1207G>A (p.Asp403Asn)	TKFC (D403N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255453	NM_015533.4(TKFC):c.1311C>T (p.Val437=)	TKFC	Single nucleotide variant (synonymous variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 3177682	NM_015533.4(TKFC):c.1315C>A (p.Leu439Ile)	TKFC (L369I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569237	NM_015533.4(TKFC):c.1321G>A (p.Glu441Lys)	TKFC (E441K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614257	NM_015533.4(TKFC):c.1328T>C (p.Met443Thr)	TKFC (M443T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816700	NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)	TKFC (G445S +1 more)	Single nucleotide variant (missense variant)	TKFC deficiency +1 more	GLikely pathogenic
Select item 2335406	NM_015533.4(TKFC):c.1373C>G (p.Ala458Gly)	TKFC (A388G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641825	NM_015533.4(TKFC):c.1383C>G (p.Pro461=)	TKFC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177683	NM_015533.4(TKFC):c.1472G>A (p.Gly491Glu)	TKFC (G421E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177684	NM_015533.4(TKFC):c.1477A>G (p.Arg493Gly)	TKFC (R493G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458189	NM_015533.4(TKFC):c.1546C>G (p.Leu516Val)	TKFC (L446V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304637	NM_015533.4(TKFC):c.1547T>G (p.Leu516Arg)	TKFC (L446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177685	NM_015533.4(TKFC):c.1582G>A (p.Glu528Lys)	TKFC (E528K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376748	NM_015533.4(TKFC):c.1594G>A (p.Glu532Lys)	TKFC (E532K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556832	NM_015533.4(TKFC):c.1604A>G (p.Lys535Arg)	TKFC (K535R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 816699	NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)	TKFC (R543I)	Single nucleotide variant (missense variant +2 more)	Inborn errors of metabolism +1 more	GLikely pathogenic
Select item 2349653	NM_015533.4(TKFC):c.1652G>A (p.Arg551Gln)	TKFC (R551Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291544	NM_015533.4(TKFC):c.1652G>T (p.Arg551Leu)	TKFC (R551L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177686	NM_015533.4(TKFC):c.1672G>A (p.Gly558Arg)	TKFC (G558R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294645	NM_015533.4(TKFC):c.1678G>T (p.Val560Leu)	TKFC (V560L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048735	NM_015533.4(TKFC):c.1699C>T (p.Arg567Trp)	TKFC (R567W)	Single nucleotide variant (missense variant +2 more)	TKFC-related disorder	GLikely benign
Select item 2243637	NM_153611.6(CYB561A3):c.682C>G (p.Pro228Ala)	CYB561A3, TKFC (P245A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483377	NM_153611.6(CYB561A3):c.673C>T (p.Arg225Cys)	CYB561A3, TKFC (R225C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458218	NM_153611.6(CYB561A3):c.445C>T (p.Arg149Cys)	CYB561A3, TKFC (R149C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 82