ClinVar for MedGen (Select 162893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066206	NM_001365088.1(SLC12A6):c.1592-39G>C	SLC12A6	Single nucleotide variant (intron variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 2678765	NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)	SLC12A6 (V854fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678764	NM_001365088.1(SLC12A6):c.2153_2156dup (p.Tyr719Ter)	SLC12A6 (Y660* +4 more)	Duplication (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678763	NM_001365088.1(SLC12A6):c.1858del (p.Thr620fs)	SLC12A6 (T561fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678762	NM_001365088.1(SLC12A6):c.3176del (p.Gly1059fs)	SLC12A6 (G1000fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678761	NM_001365088.1(SLC12A6):c.288dup (p.Ile97fs)	SLC12A6 (I38fs +3 more)	Duplication (frameshift variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678760	NM_001365088.1(SLC12A6):c.3227+2dup	SLC12A6	Duplication (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678759	NM_001365088.1(SLC12A6):c.589C>T (p.Gln197Ter)	SLC12A6 (Q138* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678758	NM_001365088.1(SLC12A6):c.2924_2928dup (p.Glu977fs)	SLC12A6 (E918fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678757	NM_001365088.1(SLC12A6):c.2401del (p.Phe800_Leu801insTer)	SLC12A6	Deletion (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678756	NM_001365088.1(SLC12A6):c.2304dup (p.His770fs)	SLC12A6 (H711fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678755	NM_001365088.1(SLC12A6):c.1148C>A (p.Ser383Ter)	SLC12A6 (S324* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678754	NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)	SLC12A6 (Q699* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 2678753	NM_001365088.1(SLC12A6):c.271+2T>C	SLC12A6	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2678752	NM_001365088.1(SLC12A6):c.930del (p.Glu310fs)	SLC12A6 (E251fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678751	NM_001365088.1(SLC12A6):c.1931dup (p.Ile645fs)	SLC12A6 (I586fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678750	NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)	SLC12A6 (K116* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678749	NM_001365088.1(SLC12A6):c.3021del (p.Thr1009fs)	SLC12A6 (T1000fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678748	NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)	SLC12A6 (W347* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678747	NM_001365088.1(SLC12A6):c.3016del (p.Leu1006fs)	SLC12A6 (L1006fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678746	NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)	SLC12A6	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678745	NM_001365088.1(SLC12A6):c.286_287del (p.Ser96fs)	SLC12A6 (S37fs +3 more)	Deletion (frameshift variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678744	NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)	SLC12A6 (W696* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678743	NM_001365088.1(SLC12A6):c.2482del (p.Gln828fs)	LOC126862097, SLC12A6 (Q769fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678742	NM_001365088.1(SLC12A6):c.2533dup (p.Ser845fs)	LOC126862097, SLC12A6 (S786fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678741	NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)	SLC12A6 (N1048fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic
Select item 2678740	NM_001365088.1(SLC12A6):c.900_909del (p.Ile301fs)	SLC12A6 (I242fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678739	NM_001365088.1(SLC12A6):c.2648_2649insT (p.Thr884fs)	SLC12A6 (T825fs +4 more)	Insertion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678737	NM_001365088.1(SLC12A6):c.1221dup (p.Phe408fs)	SLC12A6 (F349fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678736	NM_001365088.1(SLC12A6):c.2444del (p.Lys815fs)	LOC126862097, SLC12A6 (K756fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678735	NM_001365088.1(SLC12A6):c.1385del (p.Pro461_Ser462insTer)	SLC12A6	Deletion (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678734	NM_001365088.1(SLC12A6):c.2535_2536del (p.Cys846fs)	SLC12A6, LOC126862097 (C787fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2503854	NM_001365088.1(SLC12A6):c.1820del (p.Leu607fs)	SLC12A6 (L548fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1987661	NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)	SLC12A6 (R668* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 1726985	NM_001365088.1(SLC12A6):c.984del (p.Met329fs)	SLC12A6 (M270fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726824	NM_001365088.1(SLC12A6):c.1291_1292del (p.Ser431fs)	SLC12A6 (S372fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726766	NM_001365088.1(SLC12A6):c.1972_1973del (p.Asn658fs)	SLC12A6 (N599fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726741	NM_001365088.1(SLC12A6):c.2265_2266delinsTAGATT (p.Trp755fs)	SLC12A6 (W696fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726661	NM_001365088.1(SLC12A6):c.1471_1473delinsTTCCATTCCAT (p.Ile491fs)	SLC12A6 (I432fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726658	NM_001365088.1(SLC12A6):c.981_985del (p.Leu328fs)	SLC12A6 (L269fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726508	NM_001365088.1(SLC12A6):c.559_560del (p.Thr187fs)	SLC12A6 (T128fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726327	NM_001365088.1(SLC12A6):c.2929_2932delinsAGT (p.Glu977fs)	SLC12A6 (E918fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726229	NM_001365088.1(SLC12A6):c.526A>T (p.Lys176Ter)	SLC12A6 (K117* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726214	NM_001365088.1(SLC12A6):c.2285T>A (p.Leu762Ter)	SLC12A6 (L703* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1726162	NM_001365088.1(SLC12A6):c.1711dup (p.Val571fs)	SLC12A6 (V512fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725839	NM_001365088.1(SLC12A6):c.2100del (p.Trp700fs)	SLC12A6 (W641fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725684	NM_001365088.1(SLC12A6):c.2260_2266delinsCTGGT (p.Asn754fs)	SLC12A6 (N695fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725639	NM_001365088.1(SLC12A6):c.2452del (p.Met818fs)	LOC126862097, SLC12A6 (M759fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725625	NM_001365088.1(SLC12A6):c.557del (p.Gly186fs)	SLC12A6 (G127fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725320	NM_001365088.1(SLC12A6):c.2700del (p.Ser901fs)	SLC12A6 (S842fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725246	NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)	SLC12A6 (Y1026* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725068	NM_001365088.1(SLC12A6):c.1219_1220del (p.Gly407fs)	SLC12A6 (G348fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1725067	NM_001365088.1(SLC12A6):c.1997T>A (p.Leu666Ter)	SLC12A6 (L607* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724994	NM_001365088.1(SLC12A6):c.1519G>T (p.Gly507Ter)	SLC12A6 (G448* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724855	NM_001365088.1(SLC12A6):c.3029_3030del (p.Glu1010fs)	SLC12A6 (E1001fs +4 more)	Microsatellite (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724734	NM_001365088.1(SLC12A6):c.519_520del (p.Glu174fs)	SLC12A6 (E115fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724690	NM_001365088.1(SLC12A6):c.1318delinsGTCTCTTATACACATCT (p.Ser440fs)	SLC12A6 (S381fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724596	NM_001365088.1(SLC12A6):c.388_392delinsTAT (p.Asp130fs)	SLC12A6 (D115fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724355	NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)	SLC12A6 (R1005fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724283	NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)	SLC12A6 (L272* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724260	NM_001365088.1(SLC12A6):c.329_330delinsT (p.Lys110fs)	SLC12A6 (K101fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724225	NM_001365088.1(SLC12A6):c.2430_2431delinsA (p.Glu811fs)	SLC12A6 (E752fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724115	NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)	SLC12A6 (S325* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1724008	NM_001365088.1(SLC12A6):c.1822_1823del (p.Arg608fs)	SLC12A6 (R549fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1723910	NM_001365088.1(SLC12A6):c.549_550del (p.Gln184fs)	SLC12A6 (Q125fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1705184	NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)	SLC12A6 (L592fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1693281	NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter)	SLC12A6 (R1011* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1679493	NM_001365088.1(SLC12A6):c.1825-16T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1451911	NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs)	SLC12A6 (E938fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334057	NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys)	SLC12A6 (R716C +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1333935	NM_001365088.1(SLC12A6):c.271+17774G>C	SLC12A6 (G15R)	Single nucleotide variant (missense variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 1331065	NM_001365088.1(SLC12A6):c.316+6G>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1327055	NM_001365088.1(SLC12A6):c.1591+3A>G	SLC12A6	Single nucleotide variant (intron variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1204280	NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu)	SLC12A6 (P311L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184650	NM_001365088.1(SLC12A6):c.271+17647C>G	SLC12A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1184626	NM_001365088.1(SLC12A6):c.3043-75C>T	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1169433	NM_001365088.1(SLC12A6):c.317-5del	SLC12A6	Deletion (intron variant)	not provided	GBenign
Select item 1092768	NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1085188	NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1075166	NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)	SLC12A6 (R239* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072743	NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	SLC12A6 (A200fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1068924	NM_001365088.1(SLC12A6):c.2509_2510insTC (p.Glu837fs)	LOC126862097, SLC12A6 (E778fs +4 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1031609	NM_001365088.1(SLC12A6):c.2593C>A (p.Arg865Ser)	LOC126862097, SLC12A6 (R806S +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 1029941	NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter)	SLC12A6 (S333* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic
Select item 1029940	NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	SLC12A6 (R693* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 991882	NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 991881	NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr)	SLC12A6 (M259T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991880	NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met)	SLC12A6 (I296M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991879	NM_001365088.1(SLC12A6):c.1079C>G (p.Ala360Gly)	SLC12A6 (A301G +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 991878	NM_001365088.1(SLC12A6):c.1242A>G (p.Gln414=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991877	NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 991876	NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe)	SLC12A6 (I398F +4 more)	Single nucleotide variant (missense variant)	SLC12A6-related condition +1 more	GUncertain significance
Select item 991875	NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys)	SLC12A6 (S436C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991874	NM_001365088.1(SLC12A6):c.1650-7T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 991873	NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala)	SLC12A6 (V550A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 991872	NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser)	SLC12A6 (N557S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991871	NM_001365088.1(SLC12A6):c.1944-10del	SLC12A6	Deletion (intron variant)	not provided	GLikely benign
Select item 991870	NM_001365088.1(SLC12A6):c.2109C>T (p.Ala703=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991869	NM_001365088.1(SLC12A6):c.2641C>A (p.Arg881=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991868	NM_001365088.1(SLC12A6):c.2691CTT[1] (p.Phe899del)	SLC12A6 (F840del +4 more)	Microsatellite (inframe_deletion)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance

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