ClinVar for MedGen (Select 83338) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255578	NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)	SLC19A2 (S189fs)	Indel (frameshift variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 3061961	NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)	SLC19A2 (S194F)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
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 2585580	NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)	SLC19A2 (G105E)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GPathogenic/Likely pathogenic
Select item 2202878	NM_006996.3(SLC19A2):c.1223+1G>A	SLC19A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1928429	NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)	LOC129931894, SLC19A2 (A16del)	Microsatellite (inframe_deletion)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 1526293	NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)	LOC129931894, SLC19A2 (A35V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1178328	NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter)	SLC19A2 (Q233*)	Single nucleotide variant (nonsense +1 more)	Ear malformation +1 more	GPathogenic
Select item 1034343	NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)	LOC129931894, SLC19A2 (F42V)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 876998	NM_006996.3(SLC19A2):c.30G>A (p.Arg10=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GConflicting classifications of pathogenicity
Select item 876997	NM_006996.3(SLC19A2):c.42G>T (p.Ala14=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876996	NM_006996.3(SLC19A2):c.180G>T (p.Pro60=)	SLC19A2	Single nucleotide variant (synonymous variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	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 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 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 876018	NM_006996.3(SLC19A2):c.287G>A (p.Arg96His)	SLC19A2 (R96H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 876017	NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys)	SLC19A2 (S173C)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 876016	NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser)	SLC19A2 (P265S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 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 875082	NM_006996.3(SLC19A2):c.909C>G (p.Ala303=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875081	NM_006996.3(SLC19A2):c.1008G>A (p.Val336=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875080	NM_006996.3(SLC19A2):c.1149G>C (p.Val383=)	SLC19A2	Single nucleotide variant (synonymous variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	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 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 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 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 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 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 806266	NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr)	SLC19A2 (R67T)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GConflicting classifications of pathogenicity
Select item 678373	NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser)	SLC19A2 (T365S +1 more)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GBenign/Likely benign
Select item 631575	NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)	SLC19A2 (I230F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631574	NM_006996.3(SLC19A2):c.808-1G>A	SLC19A2	Single nucleotide variant (splice acceptor variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 599230	NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)	SLC19A2, LOC129931894 (T22fs)	Deletion (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 599229	NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)	SLC19A2 (L195fs)	Deletion (intron variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 546109	NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)	SLC19A2 (G334D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 510741	NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 492807	NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)	SLC19A2 (W361* +1 more)	Single nucleotide variant (nonsense)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 492806	NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)	SLC19A2 (S143F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 432105	NM_006996.3(SLC19A2):c.807+2T>G	SLC19A2	Single nucleotide variant (intron variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GLikely pathogenic
Select item 393365	NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)	SLC19A2 (R275L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 384264	NM_006996.3(SLC19A2):c.-23G>C	SLC19A2	Single nucleotide variant (5 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GBenign/Likely benign
Select item 293540	NM_006996.2(SLC19A2):c.-196C>A	LOC120893165, SLC19A2	Single nucleotide variant (5 prime UTR variant)	Thiamine-responsive megaloblastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 293539	NM_006996.3(SLC19A2):c.-163G>T	SLC19A2	Single nucleotide variant (5 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 293538	NM_006996.3(SLC19A2):c.-114C>T	SLC19A2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 293537	NM_006996.3(SLC19A2):c.-103G>A	SLC19A2	Single nucleotide variant (5 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 293536	NM_006996.3(SLC19A2):c.-12C>G	SLC19A2	Single nucleotide variant (5 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GConflicting classifications of pathogenicity
Select item 293535	NM_006996.3(SLC19A2):c.-2G>A	LOC129931894, SLC19A2	Single nucleotide variant (5 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293534	NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)	SLC19A2, LOC129931894 (P4S)	Single nucleotide variant (missense variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293533	NM_006996.3(SLC19A2):c.205-25_205-24dup	SLC19A2	Duplication (intron variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
Select item 293532	NM_006996.3(SLC19A2):c.205-25dup	SLC19A2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 293531	NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser)	SLC19A2 (N71S)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +3 more	GUncertain significance
Select item 293530	NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe)	SLC19A2 (L95F)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GUncertain significance
Select item 293529	NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)	SLC19A2 (S163C)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GUncertain significance
Select item 293528	NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 293527	NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	Thiamine-responsive megaloblastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 293526	NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +3 more	GConflicting classifications of pathogenicity
Select item 293525	NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)	SLC19A2 (V266M)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +4 more	GConflicting classifications of pathogenicity
Select item 293524	NM_006996.3(SLC19A2):c.807+6C>G	SLC19A2	Single nucleotide variant (intron variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
Select item 293523	NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro)	SLC19A2 (L282P +1 more)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GUncertain significance
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 293521	NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)	SLC19A2 (T496A +1 more)	Single nucleotide variant (missense variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GConflicting classifications of pathogenicity
Select item 293520	NM_006996.3(SLC19A2):c.*60G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +2 more	GBenign
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 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 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 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 293515	NM_006996.3(SLC19A2):c.*712dup	SLC19A2	Duplication (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
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 293513	NM_006996.3(SLC19A2):c.*967A>G	SLC19A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 293509	NM_006996.3(SLC19A2):c.*1539CTGT[1]	SLC19A2	Microsatellite (3 prime UTR variant)	Thiamine-responsive megaloblastic anemia +1 more	GUncertain significance
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 293507	NM_006996.3(SLC19A2):c.*1814G>A	SLC19A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 281210	NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)	SLC19A2 (I441T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 130319	NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=)	SLC19A2	Single nucleotide variant (synonymous variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +3 more	GBenign/Likely benign
Select item 130318	NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)	SLC19A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 130317	NM_006996.3(SLC19A2):c.-4C>T	SLC19A2	Single nucleotide variant (5 prime UTR variant)	Thiamine-responsive megaloblastic anemia +3 more	GBenign
Select item 5964	NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)	LOC129931894, SLC19A2 (P51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5963	NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)	SLC19A2 (W358* +1 more)	Single nucleotide variant (nonsense)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 5962	NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)	SLC19A2 (I145fs)	Deletion (frameshift variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 5961	NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)	SLC19A2 (Y81*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 5960	NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs)	SLC19A2 (V182fs +1 more)	Microsatellite (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 5959	NM_006996.3(SLC19A2):c.885del (p.Leu296fs)	SLC19A2 (L95fs +1 more)	Deletion (frameshift variant)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 5958	NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)	SLC19A2 (W250*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 5957	NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)	SLC19A2 (G172D)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness +1 more	GPathogenic
Select item 5956	NM_006996.3(SLC19A2):c.725del (p.Pro242fs)	SLC19A2 (P242fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 5955	NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)	SLC19A2 (R162*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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Items: 93