Related gene-specific medical variations for Gene (Select 203) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279810	NM_000476.3(AK1):c.395G>T (p.Arg132Leu)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103330	NM_000476.3(AK1):c.506T>C (p.Ile169Thr)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (I185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103321	NM_000476.3(AK1):c.266G>T (p.Gly89Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G89V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2921169	NM_000476.3(AK1):c.8-321C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency	GLikely benign
Select item 2919826	NM_000476.3(AK1):c.408C>T (p.Ser136=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2915813	NM_000476.3(AK1):c.318G>A (p.Glu106=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896961	NM_000476.3(AK1):c.43+9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886526	NM_000476.3(AK1):c.450G>A (p.Leu150=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2867904	NM_000476.3(AK1):c.7+11C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690869	NM_000476.3(AK1):c.530G>A (p.Gly177Asp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G177D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2690868	NM_000476.3(AK1):c.254A>G (p.Asn85Ser)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (N101S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2522727	NM_000476.3(AK1):c.412C>T (p.Arg138Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R154C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482817	NM_000476.3(AK1):c.161G>T (p.Gly54Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G70V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2438954	NM_000476.3(AK1):c.238A>G (p.Met80Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (M80V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2438953	NM_000476.3(AK1):c.78G>C (p.Glu26Asp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E26D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2438952	NM_000476.3(AK1):c.158G>A (p.Arg53Lys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R53K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2438951	NM_000476.3(AK1):c.229C>T (p.Arg77Trp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R77W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2438950	NM_000476.3(AK1):c.535G>C (p.Val179Leu)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V179L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2438949	NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50N +1 more)	Indel (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GUncertain significance
Select item 2384744	NM_000476.3(AK1):c.148G>A (p.Gly50Ser)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364263	NM_000476.3(AK1):c.55T>G (p.Ser19Ala)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (S19A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GUncertain significance
Select item 2332217	NM_000476.3(AK1):c.409G>A (p.Gly137Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G137R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GUncertain significance
Select item 2250380	NM_000476.3(AK1):c.199G>T (p.Val67Phe)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V83F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2209407	NM_000476.3(AK1):c.511C>T (p.Arg171Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R187C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2071557	NM_000476.3(AK1):c.483C>T (p.Ile161=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2059799	NM_000476.3(AK1):c.153G>A (p.Ser51=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 1694007	NM_000476.3(AK1):c.8-9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1679428	NM_000476.3(AK1):c.516+11C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 1626397	NM_000476.3(AK1):c.288G>A (p.Pro96=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557376	NM_000476.3(AK1):c.43+20G>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553692	NM_000476.3(AK1):c.246C>G (p.Ala82=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1330964	NM_000476.3(AK1):c.44-16G>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 1330829	NM_000476.3(AK1):c.522C>T (p.Asn174=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to adenylate kinase deficiency	GLikely benign
Select item 1330793	NM_000476.3(AK1):c.517-18C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign
Select item 1330779	NM_000476.3(AK1):c.8-376C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 1302035	NM_000476.3(AK1):c.85G>A (p.Val29Met)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V29M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288854	NM_000476.3(AK1):c.-32-303del	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Deletion (intron variant)	not provided	GBenign
Select item 1273254	NM_000476.3(AK1):c.517-75T>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263274	NM_000476.3(AK1):c.8-200T>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258819	NM_000476.3(AK1):c.207+25A>G	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236558	NM_000476.3(AK1):c.324+203C>G	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232991	NM_000476.3(AK1):c.*54C>A	LOC124310650, ST6GALNAC4-ST6GALNAC6-AK1 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1220707	NM_000476.3(AK1):c.324+198A>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175800	NM_000476.3(AK1):c.395G>A (p.Arg132His)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R132H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1162194	NM_000476.3(AK1):c.301C>A (p.Gln101Lys)	ST6GALNAC4-ST6GALNAC6-AK1, AK1 (Q101K +1 more)	Single nucleotide variant (missense variant)	Adenylate kinase deficiency	GPathogenic
Select item 812011	NM_000476.3(AK1):c.90G>T (p.Gln30His)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Q30H +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 811970	NM_000476.3(AK1):c.530G>T (p.Gly177Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G177V +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 811655	NM_000476.3(AK1):c.516+11C>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 776766	NM_000476.3(AK1):c.325-9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 734910	NM_000476.3(AK1):c.231G>A (p.Arg77=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731449	NM_000476.3(AK1):c.102C>T (p.Tyr34=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 617970	NM_000476.3(AK1):c.186G>A (p.Glu62=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign
Select item 439396	NM_000476.3(AK1):c.477T>C (p.Pro159=)	ST6GALNAC4-ST6GALNAC6-AK1, AK1	Single nucleotide variant (synonymous variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign
Select item 402354	NM_000476.3(AK1):c.367G>C (p.Glu123Gln)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E123Q +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency +2 more	GBenign
Select item 376798	NM_000476.3(AK1):c.484G>A (p.Ala162Thr)	ST6GALNAC4-ST6GALNAC6-AK1, AK1 (A162T +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 18269	NM_000476.3(AK1):c.139del (p.Val47fs)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V47fs +1 more)	Deletion (frameshift variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18268	NM_000476.3(AK1):c.418GAC[1] (p.Asp141del)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (D141del +1 more)	Microsatellite (inframe_deletion)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18267	NM_000476.3(AK1):c.190G>A (p.Gly64Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G64R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18266	NM_000476.3(AK1):c.118G>A (p.Gly40Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G40R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18265	NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Y164C +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18264	NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R107* +1 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to adenylate kinase deficiency	GLikely pathogenic
Select item 18263	NM_000476.3(AK1):c.382C>T (p.Arg128Trp)	ST6GALNAC4-ST6GALNAC6-AK1, AK1 (R128W +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic

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Items: 62