"Ambry Genetics"[submitter] AND "SLC16A2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1736914	NM_006517.3(SLC16A2):c.-3G>T	SLC16A2	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 193346	NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu)	SLC16A2 (M1L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1798639	NM_006517.3(SLC16A2):c.29T>C (p.Val10Ala)	SLC16A2 (V10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752169	NM_006517.3(SLC16A2):c.61C>T (p.Leu21=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1208884	NM_006517.3(SLC16A2):c.73G>A (p.Gly25Arg)	SLC16A2 (G25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2532992	NM_006517.5(SLC16A2):c.-129G>A	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2208945	NM_006517.5(SLC16A2):c.-128A>G	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1768902	NM_006517.5(SLC16A2):c.-124T>C	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 587847	NM_006517.5(SLC16A2):c.-114GGCAGC[4]	SLC16A2	Microsatellite (5 prime UTR variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3163088	NM_006517.5(SLC16A2):c.-109C>A	SLC16A2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3163091	NM_006517.5(SLC16A2):c.17A>C (p.Gln6Pro)	SLC16A2 (Q6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1575047	NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn)	SLC16A2 (S8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 1792385	NM_006517.5(SLC16A2):c.28G>T (p.Glu10Ter)	SLC16A2 (E10*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3163092	NM_006517.5(SLC16A2):c.47A>G (p.Gln16Arg)	SLC16A2 (Q16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294208	NM_006517.5(SLC16A2):c.62A>G (p.Glu21Gly)	SLC16A2 (E21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163093	NM_006517.5(SLC16A2):c.70G>A (p.Glu24Lys)	SLC16A2 (E24K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330642	NM_006517.5(SLC16A2):c.91C>T (p.Pro31Ser)	SLC16A2 (P31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361036	NM_006517.5(SLC16A2):c.92C>T (p.Pro31Leu)	SLC16A2 (P31L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 21462	NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)	SLC16A2 (S33P)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 193348	NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 660972	NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys)	SLC16A2 (E50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2404323	NM_006517.5(SLC16A2):c.184G>T (p.Ala62Ser)	SLC16A2 (A62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741554	NM_006517.5(SLC16A2):c.234G>A (p.Glu78=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589581	NM_006517.5(SLC16A2):c.250G>A (p.Glu84Lys)	SLC16A2 (E84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 412284	NM_006517.5(SLC16A2):c.262A>G (p.Thr88Ala)	SLC16A2 (T88A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589223	NM_006517.5(SLC16A2):c.265G>A (p.Ala89Thr)	SLC16A2 (A89T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 240686	NM_006517.5(SLC16A2):c.265G>C (p.Ala89Pro)	SLC16A2 (A89P)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely benign
Select item 588496	NM_006517.5(SLC16A2):c.289G>A (p.Gly97Ser)	SLC16A2 (G97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588557	NM_006517.5(SLC16A2):c.348C>A (p.Gly116=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 520656	NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs)	SLC16A2 (S120fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 520969	NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro)	SLC16A2 (L128P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 95421	NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)	SLC16A2 (Q138E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 521184	NM_006517.5(SLC16A2):c.492C>A (p.Phe164Leu)	SLC16A2 (F164L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 2291828	NM_006517.5(SLC16A2):c.538G>T (p.Val180Phe)	SLC16A2 (V180F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 458241	NM_006517.5(SLC16A2):c.538G>A (p.Val180Ile)	SLC16A2 (V180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1525349	NM_006517.5(SLC16A2):c.572C>G (p.Thr191Ser)	SLC16A2 (T191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 953731	NM_006517.5(SLC16A2):c.617G>A (p.Gly206Asp)	SLC16A2 (G206D)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 521200	NM_006517.5(SLC16A2):c.644C>A (p.Pro215Gln)	SLC16A2 (P215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 676798	NM_006517.5(SLC16A2):c.676C>T (p.Arg226Cys)	SLC16A2 (R226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3163094	NM_006517.5(SLC16A2):c.680G>A (p.Arg227His)	SLC16A2 (R227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985694	NM_006517.5(SLC16A2):c.781C>T (p.Gln261Ter)	SLC16A2 (Q261*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 985141	NM_006517.5(SLC16A2):c.797T>G (p.Leu266Arg)	SLC16A2 (L266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781860	NM_006517.5(SLC16A2):c.844C>G (p.Pro282Ala)	SLC16A2 (P282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1735872	NM_006517.5(SLC16A2):c.936C>T (p.Asn312=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 212187	NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)	SLC16A2 (R317C)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1741036	NM_006517.5(SLC16A2):c.955C>T (p.Arg319Cys)	SLC16A2 (R319C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1548262	NM_006517.5(SLC16A2):c.1062G>A (p.Lys354=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 590239	NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met)	SLC16A2 (V373M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 985190	NM_006517.5(SLC16A2):c.1145C>T (p.Pro382Leu)	SLC16A2 (P382L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1202449	NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)	SLC16A2 (M402L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1772771	NM_006517.5(SLC16A2):c.1222C>T (p.Arg408Trp)	SLC16A2 (R408W)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1546362	NM_006517.5(SLC16A2):c.1223G>A (p.Arg408Gln)	SLC16A2 (R408Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 587841	NM_006517.5(SLC16A2):c.1242C>T (p.Ile414=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3225696	NM_006517.5(SLC16A2):c.1350C>T (p.Tyr450=)	SLC16A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2228296	NM_006517.5(SLC16A2):c.1358G>A (p.Gly453Asp)	SLC16A2 (G453D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547892	NM_006517.5(SLC16A2):c.1394T>C (p.Ile465Thr)	SLC16A2 (I465T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3163089	NM_006517.5(SLC16A2):c.1405C>T (p.Leu469Phe)	SLC16A2 (L469F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1344031	NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg)	SLC16A2 (H477R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GLikely benign
Select item 198196	NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)	SLC16A2 (G490R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3163090	NM_006517.5(SLC16A2):c.1474G>A (p.Val492Ile)	SLC16A2 (V492I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 699956	NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)	SLC16A2 (H501R)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 521525	NM_006517.5(SLC16A2):c.1563C>G (p.Asp521Glu)	SLC16A2 (D521E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521681	NM_006517.5(SLC16A2):c.1583del (p.Leu528fs)	SLC16A2 (L528fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1645645	NM_006517.5(SLC16A2):c.1590G>A (p.Pro530=)	SLC16A2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 167692	NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)	SLC16A2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67