SLC12A6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 315542	NM_001365088.1(SLC12A6):c.*3842G>T	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884491	NM_001365088.1(SLC12A6):c.*3828T>G	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 2645147	NM_001365088.1(SLC12A6):c.3821_3822del	EMC4, SLC12A6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 315543	NM_001365088.1(SLC12A6):c.3807_3808del	SLC12A6, EMC4	Deletion (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884492	NM_001365088.1(SLC12A6):c.*3755T>C	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315544	NM_001365088.1(SLC12A6):c.*3731dup	EMC4, SLC12A6	Duplication (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884493	NM_001365088.1(SLC12A6):c.*3672A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315545	NM_001365088.1(SLC12A6):c.*3668T>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315546	NM_001365088.1(SLC12A6):c.*3580G>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315547	NM_001365088.1(SLC12A6):c.*3525C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315548	NM_001365088.1(SLC12A6):c.*3520C>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315549	NM_001365088.1(SLC12A6):c.*3497C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885427	NM_001365088.1(SLC12A6):c.*3482C>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315550	NM_001365088.1(SLC12A6):c.*3403G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315551	NM_001365088.1(SLC12A6):c.*3400C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315552	NM_001365088.1(SLC12A6):c.*3388G>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315553	NM_001365088.1(SLC12A6):c.*3309del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 886448	NM_001365088.1(SLC12A6):c.*3219G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315554	NM_001365088.1(SLC12A6):c.*3162T>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315555	NM_001365088.1(SLC12A6):c.*3139GTCT[1]	SLC12A6	Microsatellite (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315556	NM_001365088.1(SLC12A6):c.*3097G>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 886449	NM_001365088.1(SLC12A6):c.*3080G>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315557	NM_001365088.1(SLC12A6):c.3039_3040insCT	SLC12A6	Insertion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315558	NM_001365088.1(SLC12A6):c.*2909del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315559	NM_001365088.1(SLC12A6):c.*2901T>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 887696	NM_001365088.1(SLC12A6):c.*2899A>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315560	NM_001365088.1(SLC12A6):c.*2852T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 887697	NM_001365088.1(SLC12A6):c.*2829G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315561	NM_001365088.1(SLC12A6):c.*2804C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 887698	NM_001365088.1(SLC12A6):c.*2754G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315562	NM_001365088.1(SLC12A6):c.*2731G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315563	NM_001365088.1(SLC12A6):c.*2684A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 887699	NM_001365088.1(SLC12A6):c.*2660C>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315564	NM_001365088.1(SLC12A6):c.*2659A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315565	NM_001365088.1(SLC12A6):c.*2637A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315566	NM_001365088.1(SLC12A6):c.*2523C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315567	NM_001365088.1(SLC12A6):c.*2518dup	SLC12A6	Duplication (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315569	NM_001365088.1(SLC12A6):c.2516_2517insTC	SLC12A6	Insertion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315568	NM_001365088.1(SLC12A6):c.*2516dup	SLC12A6	Duplication (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 884552	NM_001365088.1(SLC12A6):c.*2516T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315570	NM_001365088.1(SLC12A6):c.*2404C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884553	NM_001365088.1(SLC12A6):c.*2369C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315571	NM_001365088.1(SLC12A6):c.2358_2360del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884554	NM_001365088.1(SLC12A6):c.*2346C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884555	NM_001365088.1(SLC12A6):c.*2342C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885485	NM_001365088.1(SLC12A6):c.*2311A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315572	NM_001365088.1(SLC12A6):c.*2289GAAA[3]	SLC12A6	Microsatellite (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885486	NM_001365088.1(SLC12A6):c.*2301G>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315573	NM_001365088.1(SLC12A6):c.2289_2294del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315575	NM_001365088.1(SLC12A6):c.*2293G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315574	NM_001365088.1(SLC12A6):c.2289_2293del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315576	NM_001365088.1(SLC12A6):c.2289_2291del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885487	NM_001365088.1(SLC12A6):c.*2289G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315577	NM_001365088.1(SLC12A6):c.*2261G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315578	NM_001365088.1(SLC12A6):c.*2220A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885488	NM_001365088.1(SLC12A6):c.*2139T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885489	NM_001365088.1(SLC12A6):c.*2129T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 886510	NM_001365088.1(SLC12A6):c.*2127A>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315579	NM_001365088.1(SLC12A6):c.*2088C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315580	NM_001365088.1(SLC12A6):c.*2039C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 886511	NM_001365088.1(SLC12A6):c.*2029T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 886512	NM_001365088.1(SLC12A6):c.*2017T>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315581	NM_001365088.1(SLC12A6):c.1963_1964del	SLC12A6	Deletion (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315582	NM_001365088.1(SLC12A6):c.*1846C>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315583	NM_001365088.1(SLC12A6):c.*1815C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 886513	NM_001365088.1(SLC12A6):c.*1725G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315584	NM_001365088.1(SLC12A6):c.*1627T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 887755	NM_001365088.1(SLC12A6):c.*1607G>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315585	NM_001365088.1(SLC12A6):c.*1568G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315586	NM_001365088.1(SLC12A6):c.*1493G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315587	NM_001365088.1(SLC12A6):c.*1492T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 3067559	NM_001365088.1(SLC12A6):c.*1382T>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 315588	NM_001365088.1(SLC12A6):c.*1357C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 887756	NM_001365088.1(SLC12A6):c.*1249C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315589	NM_001365088.1(SLC12A6):c.*1234A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315590	NM_001365088.1(SLC12A6):c.*1211T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315591	NM_001365088.1(SLC12A6):c.*1201T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315592	NM_001365088.1(SLC12A6):c.*1195A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 884613	NM_001365088.1(SLC12A6):c.*1149C>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315593	NM_001365088.1(SLC12A6):c.*1130C>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely benign
Select item 315594	NM_001365088.1(SLC12A6):c.*1098G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315595	NM_001365088.1(SLC12A6):c.*1087C>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 315596	NM_001365088.1(SLC12A6):c.*1047A>G	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 885551	NM_001365088.1(SLC12A6):c.*987G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885552	NM_001365088.1(SLC12A6):c.*918G>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885553	NM_001365088.1(SLC12A6):c.*912A>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885554	NM_001365088.1(SLC12A6):c.*906G>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885555	NM_001365088.1(SLC12A6):c.*879C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 885556	NM_001365088.1(SLC12A6):c.*876G>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315597	NM_001365088.1(SLC12A6):c.*826C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315598	NM_001365088.1(SLC12A6):c.*824T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GBenign
Select item 886573	NM_001365088.1(SLC12A6):c.*762C>T	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315599	NM_001365088.1(SLC12A6):c.*751T>C	SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance

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