ClinVar for MedGen (Select 208645) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065252	NM_006517.5(SLC16A2):c.1067C>T (p.Thr356Ile)	SLC16A2 (T356I)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 3062067	NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)	SLC16A2 (S210Y)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 3062056	NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)	SLC16A2 (A178fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 2706151	NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)	SLC16A2 (E9*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 2671831	NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)	SLC16A2 (E78*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 2627081	NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)	SLC16A2 (G122R)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 2498285	NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)	SLC16A2 (Y339fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 2435975	NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)	SLC16A2 (G233V)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 1805190	NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)	SLC16A2 (P464T)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 1804052	NM_006517.5(SLC16A2):c.731del (p.Met244fs)	SLC16A2 (M244fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1711189	NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)	SLC16A2 (Q214*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 1709764	NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)	SLC16A2 (S286fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1704366	NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)	SLC16A2 (F326L)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 1687273	NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)	SLC16A2	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1687151	NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)	SLC16A2 (I488fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1686195	NM_006517.5(SLC16A2):c.407del (p.Asn136fs)	SLC16A2 (N136fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1685440	NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)	SLC16A2 (P463L)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1679797	NM_006517.5(SLC16A2):c.431-44029A>C	SLC16A2	Single nucleotide variant (intron variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 1366592	NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)	SLC16A2 (S33fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1344896	NM_006517.5(SLC16A2):c.431-2A>G	SLC16A2	Single nucleotide variant (splice acceptor variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1327916	NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)	SLC16A2 (Q288fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1320061	NM_006517.5(SLC16A2):c.607del (p.Ile203fs)	SLC16A2 (I203fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1198739	NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)	SLC16A2 (D424N)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GLikely pathogenic
Select item 1192190	NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)	SLC16A2 (Y280*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 1077180	NM_006517.5(SLC16A2):c.-6_430+5del	SLC16A2	Deletion (splice donor variant +1 more)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1064730	GRCh37/hg19 Xq13.2(chrX:73160043-73703398)	FTX, JPX +2 more	Copy number loss	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1031650	NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)	SLC16A2 (W324*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1031649	NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)	SLC16A2 (W357*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 1031053	NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)	SLC16A2 (G112R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 982801	NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)	SLC16A2 (W145*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 958855	NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)	SLC16A2 (R171*)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic
Select item 929441	Single allele	SLC16A2	Insertion	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 915409	NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)	SLC16A2 (Y223D)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 813901	NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)	SLC16A2 (A150T)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 804031	NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)	SLC16A2 (P458fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 804030	NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)	SLC16A2 (G421V)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 694739	NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)	SLC16A2 (N136fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome +1 more	GPathogenic/Likely pathogenic
Select item 666343	NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)	SLC16A2 (G147R)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 638344	NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)	SLC16A2 (E9K)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 620181	NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)	SLC16A2 (Q52*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome +2 more	GPathogenic
Select item 587847	NM_006517.5(SLC16A2):c.-114GGCAGC[4]	SLC16A2	Microsatellite (5 prime UTR variant)	Allan-Herndon-Dudley syndrome +3 more	GBenign/Likely benign
Select item 559939	NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)	SLC16A2 (P464S)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 523037	NM_006517.5(SLC16A2):c.1170+4_1170+7del	SLC16A2	Deletion (splice donor variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 496891	NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)	SLC16A2 (W145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 436739	NM_006517.5(SLC16A2):c.532del (p.Ala178fs)	SLC16A2 (A178fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 436736	NM_006517.5(SLC16A2):c.1026+1G>T	SLC16A2	Single nucleotide variant (splice donor variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 281364	NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])	SLC16A2	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212192	NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)	SLC16A2 (Y125fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212191	NM_006517.5(SLC16A2):c.256del (p.Arg86fs)	SLC16A2 (R86fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212189	NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)	SLC16A2 (V492fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212188	NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)	SLC16A2 (I465fs)	Duplication (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 212186	NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)	SLC16A2 (R314*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic
Select item 198196	NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)	SLC16A2 (G490R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 167691	NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)	SLC16A2 (R197H)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 159907	NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)	SLC16A2 (A150E)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 159906	NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)	SLC16A2 (Q93*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 159904	NM_006517.5(SLC16A2):c.-53A>C	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Allan-Herndon-Dudley syndrome	GUncertain significance
Select item 159903	NM_006517.5(SLC16A2):c.1399+43T>G	SLC16A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 159902	NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	SLC16A2 (R371C)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 159901	NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)	SLC16A2 (G327R)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 159900	NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)	SLC16A2 (Q306*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 42110	NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)	SLC16A2 (L418P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21463	NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)	SLC16A2 (S120F)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	Gnot provided
Select item 21462	NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)	SLC16A2 (S33P)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GBenign
Select item 21461	NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)	SLC16A2 (F427del)	Microsatellite (inframe_deletion)	Allan-Herndon-Dudley syndrome	Gnot provided
Select item 21460	NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 11642	NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)	SLC16A2 (P538fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11641	NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)	SLC16A2 (F156del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11640	NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)	SLC16A2 (S374*)	Single nucleotide variant (nonsense)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11639	NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)	SLC16A2 (L360W)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11638	NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)	SLC16A2 (L494P)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11637	NG_011641.2:g.(108110_108560)_(109645_112963)del	SLC16A2	Deletion	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11636	NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)	SLC16A2 (L397P)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 11635	NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del	LOC130068443, SLC16A2	Deletion	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11634	NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)	SLC16A2 (A150V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11633	NM_006517.5(SLC16A2):c.993del (p.Ala332fs)	SLC16A2 (A332fs)	Deletion (frameshift variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 11632	NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)	SLC16A2 (L438P)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic

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Items: 77