ClinVar for Gene (Select 6557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162819	NM_000338.3(SLC12A1):c.737A>G (p.Tyr246Cys)	SLC12A1 (Y246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162818	NM_000338.3(SLC12A1):c.709G>A (p.Gly237Arg)	SLC12A1 (G237R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162817	NM_000338.3(SLC12A1):c.3217T>C (p.Trp1073Arg)	SLC12A1 (W1073R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162816	NM_000338.3(SLC12A1):c.2996G>A (p.Arg999His)	SLC12A1 (R999H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162815	NM_000338.3(SLC12A1):c.2540A>T (p.Asp847Val)	SLC12A1 (D847V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162814	NM_000338.3(SLC12A1):c.2539G>A (p.Asp847Asn)	SLC12A1 (D847N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162813	NM_000338.3(SLC12A1):c.2371A>G (p.Thr791Ala)	SLC12A1 (T791A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162811	NM_000338.3(SLC12A1):c.1835G>A (p.Gly612Glu)	LOC126862123, SLC12A1 (G612E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162810	NM_000338.3(SLC12A1):c.1489A>G (p.Thr497Ala)	SLC12A1 (T497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066182	NM_000338.3(SLC12A1):c.1786+2del	SLC12A1	Deletion (splice donor variant)	Bartter disease type 1	GUncertain significance
Select item 3065220	NM_000338.3(SLC12A1):c.781G>A (p.Gly261Ser)	SLC12A1 (G261S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 3064473	NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)	SLC12A1 (P389L)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely pathogenic
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 3062328	NM_000338.3(SLC12A1):c.1684+1G>A	SLC12A1	Single nucleotide variant (splice donor variant)	Bartter disease type 1	GLikely pathogenic
Select item 3047431	NM_000338.3(SLC12A1):c.*5T>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	SLC12A1-related condition	GLikely benign
Select item 3023025	NM_000338.3(SLC12A1):c.864+12C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022514	NM_000338.3(SLC12A1):c.3150T>G (p.Ala1050=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020087	NM_000338.3(SLC12A1):c.3165-11C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017676	NM_000338.3(SLC12A1):c.1911C>T (p.Phe637=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014923	NM_000338.3(SLC12A1):c.2427C>T (p.Gly809=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012692	NM_000338.3(SLC12A1):c.261C>T (p.His87=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012382	NM_000338.3(SLC12A1):c.528G>A (p.Lys176=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012322	NM_000338.3(SLC12A1):c.372C>T (p.Pro124=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012081	NM_000338.3(SLC12A1):c.1087+2T>C	SLC12A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3012009	NM_000338.3(SLC12A1):c.1560+16C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011428	NM_000338.3(SLC12A1):c.975+19A>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011119	NM_000338.3(SLC12A1):c.1684+5G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3010767	NM_000338.3(SLC12A1):c.738T>C (p.Tyr246=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010222	NM_000338.3(SLC12A1):c.2486-18T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009871	NM_000338.3(SLC12A1):c.2629+9T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009780	NM_000338.3(SLC12A1):c.1942+18T>G	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009623	NM_000338.3(SLC12A1):c.1551A>G (p.Lys517=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009323	NM_000338.3(SLC12A1):c.861T>A (p.Leu287=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008402	NM_000338.3(SLC12A1):c.2155G>T (p.Gly719Ter)	SLC12A1 (G719*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3008389	NM_000338.3(SLC12A1):c.3267A>G (p.Gly1089=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006519	NM_000338.3(SLC12A1):c.553-15del	SLC12A1	Deletion (intron variant)	not provided	GLikely benign
Select item 3006125	NM_000338.3(SLC12A1):c.2572C>T (p.Arg858Ter)	SLC12A1 (R858*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3004342	NM_000338.3(SLC12A1):c.3231C>G (p.Leu1077=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003882	NM_000338.3(SLC12A1):c.2385C>T (p.Asn795=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003743	NM_000338.3(SLC12A1):c.2154+20del	SLC12A1	Deletion (intron variant)	not provided	GLikely benign
Select item 3003310	NM_000338.3(SLC12A1):c.530_531dup (p.Gly178fs)	SLC12A1 (G178fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3002525	NM_000338.3(SLC12A1):c.3165-13T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002341	NM_000338.3(SLC12A1):c.297A>G (p.Gln99=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001942	NM_000338.3(SLC12A1):c.405C>T (p.His135=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001420	NM_000338.3(SLC12A1):c.3096+10T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000333	NM_000338.3(SLC12A1):c.725-15C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999718	NM_000338.3(SLC12A1):c.1216-14T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999028	NM_000338.3(SLC12A1):c.774G>A (p.Gly258=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998036	NM_000338.3(SLC12A1):c.450C>T (p.Asp150=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997574	NM_000338.3(SLC12A1):c.1194C>T (p.Ala398=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997460	NM_000338.3(SLC12A1):c.1521C>T (p.Ser507=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996319	NM_000338.3(SLC12A1):c.7C>T (p.Leu3=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996106	NM_000338.3(SLC12A1):c.1561-20C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996050	NM_000338.3(SLC12A1):c.3018T>C (p.Asp1006=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995848	NM_000338.3(SLC12A1):c.1245C>G (p.Thr415=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995665	NM_000338.3(SLC12A1):c.2485+14T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995280	NM_000338.3(SLC12A1):c.1902T>C (p.Ile634=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994771	NM_000338.3(SLC12A1):c.1737T>C (p.Tyr579=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993984	NM_000338.3(SLC12A1):c.1776C>T (p.Ala592=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993374	NM_000338.3(SLC12A1):c.2238T>G (p.Ala746=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993107	NM_000338.3(SLC12A1):c.1233C>A (p.Ile411=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993085	NM_000338.3(SLC12A1):c.2485+17T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991296	NM_000338.3(SLC12A1):c.3208T>G (p.Tyr1070Asp)	SLC12A1 (Y1070D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991215	NM_000338.3(SLC12A1):c.3164+7A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990711	NM_000338.3(SLC12A1):c.2295+18G>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990542	NM_000338.3(SLC12A1):c.629-6T>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990159	NM_000338.3(SLC12A1):c.3141C>G (p.Ser1047=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988714	NM_000338.3(SLC12A1):c.1453-13C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987497	NM_000338.3(SLC12A1):c.1943-15C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987288	NM_000338.3(SLC12A1):c.360C>T (p.Ser120=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986123	NM_000338.3(SLC12A1):c.865-10G>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985300	NM_000338.3(SLC12A1):c.724+18T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984763	NM_000338.3(SLC12A1):c.629-12C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984567	NM_000338.3(SLC12A1):c.864+17C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984143	NM_000338.3(SLC12A1):c.2568C>T (p.Gly856=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983178	NM_000338.3(SLC12A1):c.2296-14T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982691	NM_000338.3(SLC12A1):c.2154+17C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981904	NM_000338.3(SLC12A1):c.768C>T (p.Phe256=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related condition +1 more	GLikely benign
Select item 2981318	NM_000338.3(SLC12A1):c.1266C>T (p.Thr422=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980780	NM_000338.3(SLC12A1):c.725-15dup	SLC12A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2980620	NM_000338.3(SLC12A1):c.1482C>T (p.Pro494=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980486	NM_000338.3(SLC12A1):c.3102C>T (p.Tyr1034=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980310	NM_000338.3(SLC12A1):c.2403-15T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979055	NM_000338.3(SLC12A1):c.976-9C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978079	NM_000338.3(SLC12A1):c.2762-19A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977825	NM_000338.3(SLC12A1):c.553-14G>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977051	NM_000338.3(SLC12A1):c.3165-7T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976777	NM_000338.3(SLC12A1):c.330C>T (p.Pro110=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976393	NM_000338.3(SLC12A1):c.2154+19C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976365	NM_000338.3(SLC12A1):c.975+19A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976330	NM_000338.3(SLC12A1):c.467A>G (p.Asp156Gly)	SLC12A1 (D156G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976258	NM_000338.3(SLC12A1):c.1685-5T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975922	NM_000338.3(SLC12A1):c.2960+11T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974405	NM_000338.3(SLC12A1):c.421-14T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974273	NM_000338.3(SLC12A1):c.1716C>T (p.Ser572=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973803	NM_000338.3(SLC12A1):c.2403-14G>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973689	NM_000338.3(SLC12A1):c.2466T>C (p.Ser822=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972539	NM_000338.3(SLC12A1):c.1787-13A>G	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972305	NM_000338.3(SLC12A1):c.553-15C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971950	NM_000338.3(SLC12A1):c.2874-9T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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