SLC16A12[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190162	NM_213606.4(SLC16A12):c.*185C>A	SLC16A12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1269484	NM_213606.4(SLC16A12):c.*162T>A	SLC16A12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2154033	NM_213606.4(SLC16A12):c.1542C>A (p.Ser514Arg)	SLC16A12 (S514R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163068	NM_213606.4(SLC16A12):c.1519G>A (p.Ala507Thr)	SLC16A12 (A507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394640	NM_213606.4(SLC16A12):c.1486A>G (p.Arg496Gly)	SLC16A12 (R496G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1968100	NM_213606.4(SLC16A12):c.1481T>G (p.Val494Gly)	SLC16A12 (V494G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799244	NM_213606.4(SLC16A12):c.1441A>C (p.Lys481Gln)	SLC16A12 (K481Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292044	NM_213606.4(SLC16A12):c.1398G>A (p.Met466Ile)	SLC16A12 (M466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280320	NM_213606.4(SLC16A12):c.1352T>C (p.Ile451Thr)	SLC16A12 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241742	NM_213606.4(SLC16A12):c.1318A>C (p.Thr440Pro)	SLC16A12 (T440P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355982	NM_213606.4(SLC16A12):c.1291C>T (p.Arg431Trp)	SLC16A12 (R431W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1251034	NM_213606.4(SLC16A12):c.1289-239A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060138	NM_213606.4(SLC16A12):c.1230G>A (p.Ala410=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2107056	NM_213606.4(SLC16A12):c.1219T>C (p.Leu407=)	SLC16A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652604	NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)	SLC16A12 (S406C)	Single nucleotide variant (missense variant)	SLC16A12-related disorder +2 more	GBenign/Likely benign
Select item 2373599	NM_213606.4(SLC16A12):c.1129G>A (p.Val377Met)	SLC16A12 (V377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180132	NM_213606.4(SLC16A12):c.1029-126A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278011	NM_213606.4(SLC16A12):c.1029-326A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178645	NM_213606.4(SLC16A12):c.1028+10A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591603	NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly)	SLC16A12 (D341G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493591	NM_213606.4(SLC16A12):c.992T>C (p.Ile331Thr)	SLC16A12 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239784	NM_213606.4(SLC16A12):c.970A>C (p.Ile324Leu)	SLC16A12 (I324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163074	NM_213606.4(SLC16A12):c.946C>G (p.Gln316Glu)	SLC16A12 (Q316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244066	NM_213606.4(SLC16A12):c.944A>C (p.His315Pro)	SLC16A12 (H315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 594240	NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)	SLC16A12 (F301fs)	Microsatellite (frameshift variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GUncertain significance
Select item 2405241	NM_213606.4(SLC16A12):c.893G>A (p.Ser298Asn)	SLC16A12 (S298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025985	NM_213606.4(SLC16A12):c.862G>A (p.Val288Ile)	SLC16A12 (V288I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3054720	NM_213606.4(SLC16A12):c.837C>G (p.Leu279=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2314991	NM_213606.4(SLC16A12):c.826A>G (p.Ser276Gly)	SLC16A12 (S276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1310460	NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe)	SLC16A12 (S253F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2602797	NM_213606.4(SLC16A12):c.751C>T (p.Arg251Trp)	SLC16A12 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470014	NM_213606.4(SLC16A12):c.746T>C (p.Ile249Thr)	SLC16A12 (I249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784	NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)	SLC16A12 (Q245*)	Single nucleotide variant (nonsense)	Juvenile cataract-microcornea-renal glucosuria syndrome	GPathogenic
Select item 2760404	NM_213606.4(SLC16A12):c.718C>T (p.His240Tyr)	SLC16A12 (H240Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562311	NM_213606.4(SLC16A12):c.662del (p.Gly221fs)	SLC16A12 (G221fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3163073	NM_213606.4(SLC16A12):c.652T>A (p.Cys218Ser)	SLC16A12 (C218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250645	NM_213606.4(SLC16A12):c.620T>C (p.Leu207Ser)	SLC16A12 (L207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217336	NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)	SLC16A12 (R204W)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 1049611	NM_213606.4(SLC16A12):c.609G>T (p.Trp203Cys)	SLC16A12 (W203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040917	NM_213606.4(SLC16A12):c.534C>T (p.Ile178=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2416274	NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln)	SLC16A12 (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163072	NM_213606.4(SLC16A12):c.478G>C (p.Ala160Pro)	SLC16A12 (A160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 68476	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SLC16A12 (S158P)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3163071	NM_213606.4(SLC16A12):c.454G>A (p.Gly152Arg)	SLC16A12 (G152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599777	NM_213606.4(SLC16A12):c.449-6C>T	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233413	NM_213606.4(SLC16A12):c.448+154G>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304566	NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met)	SLC16A12 (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191007	NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)	SLC16A12 (A135V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931641	NM_213606.4(SLC16A12):c.305-9T>C	SLC16A12	Single nucleotide variant (intron variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 1282329	NM_213606.4(SLC16A12):c.305-98A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259227	NM_213606.4(SLC16A12):c.305-261A>C	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274623	NM_213606.4(SLC16A12):c.304+299C>T	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325937	NM_213606.4(SLC16A12):c.304+35C>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3163070	NM_213606.4(SLC16A12):c.261G>A (p.Thr87=)	SLC16A12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2349363	NM_213606.4(SLC16A12):c.260C>T (p.Thr87Met)	SLC16A12 (T87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455023	NM_213606.4(SLC16A12):c.253G>A (p.Ala85Thr)	SLC16A12 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040349	NM_213606.4(SLC16A12):c.252C>T (p.Tyr84=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2716293	NM_213606.4(SLC16A12):c.201-9A>G	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543945	NM_213606.4(SLC16A12):c.201-16G>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240617	NM_213606.4(SLC16A12):c.201-276C>A	SLC16A12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155244	GRCh38/hg38 10q23.31(chr10:89535104-89540489)x3	SLC16A12	Copy number gain	See cases	GLikely benign

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: 61