ClinVar for Gene (Select 9990) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318829	NM_001365088.1(SLC12A6):c.3032G>C (p.Arg1011Pro)	SLC12A6 (R952P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318828	NM_001365088.1(SLC12A6):c.1555G>A (p.Gly519Ser)	SLC12A6 (G460S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318825	NM_001365088.1(SLC12A6):c.1420C>T (p.His474Tyr)	SLC12A6 (H423Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256985	NM_001365088.1(SLC12A6):c.1800G>T (p.Lys600Asn)	SLC12A6 (K541N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243911	NC_000015.9:g.(?_34526082)_(34553241_?)dup	SLC12A6	Duplication	not provided	GUncertain significance
Select item 3243909	NC_000015.9:g.(?_34526082)_(34628881_?)dup	SLC12A6	Duplication	not provided	GUncertain significance
Select item 3243908	NC_000015.9:g.(?_34537874)_(34543278_?)del	SLC12A6	Deletion	not provided	GPathogenic
Select item 3243907	NC_000015.9:g.(?_34526082)_(34628881_?)del	SLC12A6	Deletion	not provided	GPathogenic
Select item 3240471	NM_001365088.1(SLC12A6):c.1020del (p.Asn341fs)	SLC12A6 (N282fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240470	NM_001365088.1(SLC12A6):c.256dup (p.Gln86fs)	SLC12A6 (Q27fs +2 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240469	NM_001365088.1(SLC12A6):c.1825-1G>A	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240468	NM_001365088.1(SLC12A6):c.746-2A>G	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240467	NM_001365088.1(SLC12A6):c.617dup (p.Leu206fs)	LOC129390683, SLC12A6 (L147fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240466	NM_001365088.1(SLC12A6):c.746-1G>A	SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240465	NM_001365088.1(SLC12A6):c.3361+1G>C	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic
Select item 3240464	NM_001365088.1(SLC12A6):c.2555del (p.Lys852fs)	SLC12A6, LOC126862097 (K793fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240463	NM_001365088.1(SLC12A6):c.2455dup (p.Glu819fs)	LOC126862097, SLC12A6 (E760fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240462	NM_001365088.1(SLC12A6):c.1333+1del	SLC12A6	Deletion (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240460	NM_001365088.1(SLC12A6):c.3114_3120del (p.Glu1039fs)	SLC12A6 (E1024fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240459	NM_001365088.1(SLC12A6):c.1118+1G>C	SLC12A6	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3229122	NM_001365088.1(SLC12A6):c.3338G>A (p.Arg1113Gln)	SLC12A6 (R1054Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3229121	NM_001365088.1(SLC12A6):c.2420C>G (p.Ala807Gly)	SLC12A6 (A748G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162876	NM_001365088.1(SLC12A6):c.620G>T (p.Arg207Leu)	LOC129390683, SLC12A6 (R148L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162874	NM_001365088.1(SLC12A6):c.3193A>G (p.Met1065Val)	SLC12A6 (M1014V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162872	NM_001365088.1(SLC12A6):c.2048T>C (p.Leu683Pro)	SLC12A6 (L632P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162871	NM_001365088.1(SLC12A6):c.1991A>C (p.Gln664Pro)	SLC12A6 (Q664P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162870	NM_001365088.1(SLC12A6):c.1337A>C (p.Asn446Thr)	SLC12A6 (N437T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067559	NM_001365088.1(SLC12A6):c.*1382T>A	SLC12A6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3048267	NM_001365088.1(SLC12A6):c.-10A>T	SLC12A6	Single nucleotide variant (5 prime UTR variant +1 more)	SLC12A6-related disorder	GLikely benign
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 3024047	NM_001365088.1(SLC12A6):c.1760G>A (p.Ser587Asn)	SLC12A6 (S536N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021551	NM_001365088.1(SLC12A6):c.591A>G (p.Gln197=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020734	NM_001365088.1(SLC12A6):c.2802+10A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020109	NM_001365088.1(SLC12A6):c.1591+12A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019397	NM_001365088.1(SLC12A6):c.877-7C>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019283	NM_001365088.1(SLC12A6):c.2437-19G>T	LOC126862097, SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018950	NM_001365088.1(SLC12A6):c.161C>G (p.Thr54Arg)	SLC12A6 (T45R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3018896	NM_001365088.1(SLC12A6):c.2633-17T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015172	NM_001365088.1(SLC12A6):c.1824+18A>T	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014386	NM_001365088.1(SLC12A6):c.271+20G>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013749	NM_001365088.1(SLC12A6):c.1944-14T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013301	NM_001365088.1(SLC12A6):c.336T>C (p.Ala112=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011111	NM_001365088.1(SLC12A6):c.543+11A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011018	NM_001365088.1(SLC12A6):c.741G>A (p.Val247=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006295	NM_001365088.1(SLC12A6):c.27G>A (p.Lys9=)	SLC12A6	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3006160	NM_001365088.1(SLC12A6):c.1824+7G>T	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005093	NM_001365088.1(SLC12A6):c.90C>T (p.Asp30=)	SLC12A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3004828	NM_001365088.1(SLC12A6):c.412-18A>T	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003049	NM_001365088.1(SLC12A6):c.166C>G (p.Arg56Gly)	SLC12A6 (R56G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3002864	NM_001365088.1(SLC12A6):c.690+1G>T	LOC129390683, SLC12A6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3002154	NM_001365088.1(SLC12A6):c.843C>T (p.Ala281=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001839	NM_001365088.1(SLC12A6):c.691-19C>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001756	NM_001365088.1(SLC12A6):c.2856C>T (p.Asn952=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000597	NM_001365088.1(SLC12A6):c.2268-16A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000128	NM_001365088.1(SLC12A6):c.2541C>A (p.Gly847=)	LOC126862097, SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000098	NM_001365088.1(SLC12A6):c.746-7C>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998229	NM_001365088.1(SLC12A6):c.2162+12T>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997806	NM_001365088.1(SLC12A6):c.1650-20C>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997337	NM_001365088.1(SLC12A6):c.162A>G (p.Thr54=)	SLC12A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2996000	NM_001365088.1(SLC12A6):c.660T>C (p.Ala220=)	LOC129390683, SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995996	NM_001365088.1(SLC12A6):c.1642A>C (p.Arg548=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994482	NM_001365088.1(SLC12A6):c.1324A>G (p.Ile442Val)	SLC12A6 (I433V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994367	NM_001365088.1(SLC12A6):c.2802+14_2802+15insA	SLC12A6	Insertion (intron variant)	not provided	GLikely benign
Select item 2993954	NM_001365088.1(SLC12A6):c.1592-8T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993660	NM_001365088.1(SLC12A6):c.1492+13del	SLC12A6	Deletion (intron variant)	not provided	GLikely benign
Select item 2992515	NM_001365088.1(SLC12A6):c.2935-18_2935-17insAAA	SLC12A6	Insertion (intron variant)	not provided	GLikely benign
Select item 2992125	NM_001365088.1(SLC12A6):c.2042+11T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991400	NM_001365088.1(SLC12A6):c.1120G>T (p.Val374Phe)	SLC12A6 (V315F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990764	NM_001365088.1(SLC12A6):c.1824+8A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990763	NM_001365088.1(SLC12A6):c.3227+20A>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990480	NM_001365088.1(SLC12A6):c.316+13T>C	SLC12A6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2988753	NM_001365088.1(SLC12A6):c.231A>G (p.Pro77=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988665	NM_001365088.1(SLC12A6):c.1011A>G (p.Val337=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985566	NM_001365088.1(SLC12A6):c.1068G>A (p.Leu356=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983671	NM_001365088.1(SLC12A6):c.627A>G (p.Thr209=)	LOC129390683, SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982199	NM_001365088.1(SLC12A6):c.411+11G>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981011	NM_001365088.1(SLC12A6):c.412-13A>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980829	NM_001365088.1(SLC12A6):c.1492+10T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979128	NM_001365088.1(SLC12A6):c.2162+9G>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978491	NM_001365088.1(SLC12A6):c.1592-14T>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977344	NM_001365088.1(SLC12A6):c.316+16G>A	SLC12A6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2975225	NM_001365088.1(SLC12A6):c.68A>G (p.Asp23Gly)	SLC12A6 (D14G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975120	NM_001365088.1(SLC12A6):c.1373T>C (p.Ile458Thr)	SLC12A6 (I458T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974143	NM_001365088.1(SLC12A6):c.786A>G (p.Pro262=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973490	NM_001365088.1(SLC12A6):c.272-15T>C	SLC12A6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2973261	NM_001365088.1(SLC12A6):c.745+15G>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972659	NM_001365088.1(SLC12A6):c.2632+17A>G	LOC126862097, SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971189	NM_001365088.1(SLC12A6):c.411+19del	SLC12A6	Deletion (intron variant)	not provided	GLikely benign
Select item 2968709	NM_001365088.1(SLC12A6):c.1953C>T (p.Leu651=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965056	NM_001365088.1(SLC12A6):c.1592-6T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964828	NM_001365088.1(SLC12A6):c.2268-19C>T	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964530	NM_001365088.1(SLC12A6):c.411+18A>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964368	NM_001365088.1(SLC12A6):c.3171C>G (p.Ser1057=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962895	NM_001365088.1(SLC12A6):c.2043-16G>A	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962573	NM_001365088.1(SLC12A6):c.1726T>G (p.Ser576Ala)	SLC12A6 (S576A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961388	NM_001365088.1(SLC12A6):c.192T>G (p.Ser64=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959368	NM_001365088.1(SLC12A6):c.3043-17T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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