10560[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 875027	NM_006996.3(SLC19A2):c.*1928T>C	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 875028	NM_006996.3(SLC19A2):c.*1927C>T	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293506	NM_006996.3(SLC19A2):c.*1901AATA[1]	SLC19A2	Microsatellite (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293507	NM_006996.3(SLC19A2):c.*1814G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GBenign/Likely benign
Select item 293508	NM_006996.3(SLC19A2):c.*1588T>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293509	NM_006996.3(SLC19A2):c.*1539CTGT[1]	SLC19A2	Microsatellite (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 875029	NM_006996.3(SLC19A2):c.*1543C>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293510	NM_006996.3(SLC19A2):c.*1524C>T	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GConflicting classifications of pathogenicity
Select item 293511	NM_006996.3(SLC19A2):c.*1523A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293512	NM_006996.3(SLC19A2):c.*1493G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 875948	NM_006996.3(SLC19A2):c.*1421A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 875949	NM_006996.3(SLC19A2):c.*1349T>C	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 875950	NM_006996.3(SLC19A2):c.*1246T>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 875951	NM_006996.3(SLC19A2):c.*1186A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293513	NM_006996.3(SLC19A2):c.*967A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GBenign
Select item 293514	NM_006996.3(SLC19A2):c.898_899del	SLC19A2	Deletion (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293515	NM_006996.3(SLC19A2):c.*712dup	SLC19A2	Duplication (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 876936	NM_006996.3(SLC19A2):c.*658T>C	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293516	NM_006996.3(SLC19A2):c.*638G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293517	NM_006996.3(SLC19A2):c.*627C>T	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 876937	NM_006996.3(SLC19A2):c.*440T>C	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293518	NM_006996.3(SLC19A2):c.*390T>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293519	NM_006996.3(SLC19A2):c.*255A>T	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 876938	NM_006996.3(SLC19A2):c.*174C>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 293520	NM_006996.3(SLC19A2):c.*60G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +2 more	GBenign
Select item 874150	NM_006996.3(SLC19A2):c.*51C>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 874151	NM_006996.3(SLC19A2):c.*31A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 2711065	NM_006996.3(SLC19A2):c.1491A>G (p.Ser497=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 293521	NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)	SLC19A2 (T496A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2821749	NM_006996.3(SLC19A2):c.1485C>T (p.Thr495=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866438	NM_006996.3(SLC19A2):c.1476T>G (p.Ser492=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830661	NM_006996.3(SLC19A2):c.1476T>C (p.Ser492=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970450	NM_006996.3(SLC19A2):c.1467A>G (p.Gln489=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974194	NM_006996.3(SLC19A2):c.1464A>G (p.Pro488=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874756	NM_006996.3(SLC19A2):c.1455G>A (p.Leu485=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013836	NM_006996.3(SLC19A2):c.1453C>T (p.Leu485=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254417	NM_006996.3(SLC19A2):c.1450A>T (p.Lys484Ter)	SLC19A2 (K283* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2919007	NM_006996.3(SLC19A2):c.1446T>C (p.Cys482=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 293522	NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr)	SLC19A2 (M479T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1485197	NM_006996.3(SLC19A2):c.1432G>A (p.Val478Ile)	SLC19A2 (V277I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712549	NM_006996.3(SLC19A2):c.1428C>T (p.Val476=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745314	NM_006996.3(SLC19A2):c.1410C>T (p.Phe470=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799597	NM_006996.3(SLC19A2):c.1407T>C (p.Val469=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145562	NM_006996.3(SLC19A2):c.1399G>A (p.Ala467Thr)	SLC19A2 (A266T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1582995	NM_006996.3(SLC19A2):c.1398C>T (p.Ile466=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812392	NM_006996.3(SLC19A2):c.1395C>T (p.Leu465=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724315	NM_006996.3(SLC19A2):c.1380C>T (p.Ala460=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734015	NM_006996.3(SLC19A2):c.1370del (p.Phe456_Leu457insTer)	SLC19A2	Deletion (nonsense)	not provided	GPathogenic
Select item 2519493	NM_006996.3(SLC19A2):c.1367T>A (p.Phe456Tyr)	SLC19A2 (F255Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2885658	NM_006996.3(SLC19A2):c.1366-4del	SLC19A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2826761	NM_006996.3(SLC19A2):c.1366-4C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712541	NM_006996.3(SLC19A2):c.1366-6T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849682	NM_006996.3(SLC19A2):c.1366-8C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764206	NM_006996.3(SLC19A2):c.1366-9C>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820942	NM_006996.3(SLC19A2):c.1366-15T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517875	NM_006996.3(SLC19A2):c.1366-16C>T	SLC19A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 678746	NM_006996.3(SLC19A2):c.1366-55A>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192995	NM_006996.3(SLC19A2):c.1366-125G>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673252	NM_006996.3(SLC19A2):c.1366-184C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673628	NM_006996.3(SLC19A2):c.1365+196G>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757933	NM_006996.3(SLC19A2):c.1365+20A>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750457	NM_006996.3(SLC19A2):c.1365+18G>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005884	NM_006996.3(SLC19A2):c.1365+15T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850936	NM_006996.3(SLC19A2):c.1365+7T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114203	NM_006996.3(SLC19A2):c.1351_1360del (p.Glu451fs)	SLC19A2 (E250fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2959081	NM_006996.3(SLC19A2):c.1359C>T (p.Thr453=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 874152	NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile)	SLC19A2 (V242I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 281210	NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)	SLC19A2 (I441T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2689998	NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)	SLC19A2 (L237F +1 more)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 2134266	NM_006996.3(SLC19A2):c.1311G>A (p.Leu437=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986421	NM_006996.3(SLC19A2):c.1308G>A (p.Thr436=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182198	NM_006996.3(SLC19A2):c.1308G>T (p.Thr436=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421007	NM_006996.3(SLC19A2):c.1307C>T (p.Thr436Met)	SLC19A2 (T235M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962716	NM_006996.3(SLC19A2):c.1299A>T (p.Ala433=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764485	NM_006996.3(SLC19A2):c.1294C>T (p.Leu432=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646350	NM_006996.3(SLC19A2):c.1293C>T (p.Ala431=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805279	NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser)	SLC19A2 (A431S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386282	NM_006996.3(SLC19A2):c.1278A>G (p.Val426=)	SLC19A2	Single nucleotide variant (synonymous variant)	SLC19A2-related disorder +1 more	GLikely benign
Select item 917417	NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile)	SLC19A2 (V225I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2875455	NM_006996.3(SLC19A2):c.1275T>C (p.Gly425=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319019	NM_006996.3(SLC19A2):c.1267G>C (p.Val423Leu)	SLC19A2 (V423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006535	NM_006996.3(SLC19A2):c.1263C>A (p.Ala421=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983486	NM_006996.3(SLC19A2):c.1263C>T (p.Ala421=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416684	NM_006996.3(SLC19A2):c.1256G>A (p.Arg419His)	SLC19A2 (R218H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2246825	NM_006996.3(SLC19A2):c.1255C>T (p.Arg419Cys)	SLC19A2 (R218C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006359	NM_006996.3(SLC19A2):c.1245C>A (p.Leu415=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761628	NM_006996.3(SLC19A2):c.1245C>T (p.Leu415=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715405	NM_006996.3(SLC19A2):c.1224-4dup	SLC19A2	Duplication (intron variant)	not provided	GBenign
Select item 2758701	NM_006996.3(SLC19A2):c.1224-7_1224-4del	SLC19A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2988785	NM_006996.3(SLC19A2):c.1224-8T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786033	NM_006996.3(SLC19A2):c.1224-13del	SLC19A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2782499	NM_006996.3(SLC19A2):c.1224-18_1224-17del	SLC19A2	Microsatellite (intron variant)	not provided	GLikely benign

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