"Counsyl"[submitter] AND "SLC12A6"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556321	NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser)	SLC12A6	Single nucleotide variant (stop lost)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 30440	NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	SLC12A6 (R1134* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic/Likely pathogenic
Select item 557820	NM_001365088.1(SLC12A6):c.3361+2T>G	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 558454	NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter)	SLC12A6 (E1065* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GLikely pathogenic
Select item 554561	NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)	SLC12A6 (R1062* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370769	NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs)	SLC12A6 (K1051fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 371054	NM_001365088.1(SLC12A6):c.3227+1G>A	SLC12A6	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 371461	NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs)	SLC12A6 (M1015fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 552262	NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter)	SLC12A6 (N1014* +4 more)	Duplication (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 371519	NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs)	SLC12A6 (S969fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370137	NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	SLC12A6 (R886* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 370291	NM_001365088.1(SLC12A6):c.2803-1G>T	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370290	NM_001365088.1(SLC12A6):c.2803-1G>C	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 558284	NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del)	SLC12A6 (S846del +4 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 550765	NM_001365088.1(SLC12A6):c.2633-1G>A	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370994	NM_001365088.1(SLC12A6):c.2632+1G>A	SLC12A6, LOC126862097	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370235	NM_001365088.1(SLC12A6):c.2437-2A>G	LOC126862097, SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GLikely pathogenic
Select item 370371	NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs)	SLC12A6 (L749fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370149	NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter)	SLC12A6 (E755* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 555764	NM_001365088.1(SLC12A6):c.2162+1G>A	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 556551	NM_001365088.1(SLC12A6):c.2043-2A>G	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 554536	NM_001365088.1(SLC12A6):c.1650-1G>C	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 555580	NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup)	SLC12A6	Duplication (inframe_insertion)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GUncertain significance
Select item 550001	NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del)	SLC12A6	Deletion (inframe_deletion)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 370139	NM_001365088.1(SLC12A6):c.1118+1G>A	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 370595	NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)	SLC12A6 (Y270* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 551233	NM_001365088.1(SLC12A6):c.745+2T>A	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 370396	NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)	LOC129390683, SLC12A6 (Q168* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370961	NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter)	LOC129390683, SLC12A6 (W159* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 188972	NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)	SLC12A6 (Y192fs +4 more)	Microsatellite (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic/Likely pathogenic
Select item 371230	NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs)	SLC12A6 (Q169fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 315621	NM_001365088.1(SLC12A6):c.543+6G>T	SLC12A6	Single nucleotide variant (intron variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 551801	NM_001365088.1(SLC12A6):c.543+2T>G	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GLikely pathogenic
Select item 551173	NM_001365088.1(SLC12A6):c.316+2dup	SLC12A6	Duplication (splice donor variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 555263	NM_001365088.1(SLC12A6):c.298del (p.Glu100fs)	SLC12A6 (E41fs +3 more)	Deletion (frameshift variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370269	NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)	SLC12A6 (E100* +3 more)	Single nucleotide variant (nonsense +1 more)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 552537	NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs)	SLC12A6 (Q43fs +3 more)	Deletion (frameshift variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 555508	NM_001365088.1(SLC12A6):c.271+17808T>G	SLC12A6 (L26*)	Single nucleotide variant (nonsense +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 550449	NM_001365088.1(SLC12A6):c.271+17732A>C	SLC12A6 (M1L)	Single nucleotide variant (missense variant +2 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 550250	NM_001365088.1(SLC12A6):c.271+17732A>G	SLC12A6 (M1V)	Single nucleotide variant (missense variant +2 more)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 550852	NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg)	SLC12A6 (M60R +2 more)	Single nucleotide variant (missense variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 556107	NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile)	SLC12A6 (M1I)	Single nucleotide variant (missense variant +2 more)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GUncertain significance

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Items: 42