ClinVar for Gene (Select 6557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370354	NM_000338.3(SLC12A1):c.629-547A>G	SLC12A1 (N236D)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 1	GUncertain significance
Select item 3366581	NM_000338.3(SLC12A1):c.2295+6G>T	SLC12A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3366372	NM_000338.3(SLC12A1):c.2295+6G>A	SLC12A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3364851	NM_000338.3(SLC12A1):c.1215G>A (p.Glu405=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3364359	NM_000338.3(SLC12A1):c.770G>A (p.Gly257Asp)	SLC12A1 (G257D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351884	NM_000338.3(SLC12A1):c.1043C>T (p.Pro348Leu)	SLC12A1 (P348L)	Single nucleotide variant (missense variant)	SLC12A1-related disorder	GUncertain significance
Select item 3348869	NM_000338.3(SLC12A1):c.479G>T (p.Gly160Val)	SLC12A1 (G160V)	Single nucleotide variant (missense variant)	SLC12A1-related disorder	GUncertain significance
Select item 3318805	NM_000338.3(SLC12A1):c.1447T>G (p.Phe483Val)	SLC12A1 (F483V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318804	NM_000338.3(SLC12A1):c.3154C>T (p.Leu1052Phe)	SLC12A1 (L1052F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318803	NM_000338.3(SLC12A1):c.91G>A (p.Glu31Lys)	SLC12A1 (E31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318802	NM_000338.3(SLC12A1):c.1975T>C (p.Ser659Pro)	SLC12A1 (S659P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256887	NM_000338.3(SLC12A1):c.3094A>G (p.Lys1032Glu)	SLC12A1 (K1032E)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 3251852	NM_000338.3(SLC12A1):c.1663G>A (p.Ala555Thr)	SLC12A1 (A555T)	Single nucleotide variant (missense variant)	Bartter syndrome	GLikely pathogenic
Select item 3248632	NM_000338.3(SLC12A1):c.2873+6T>G	SLC12A1	Single nucleotide variant (intron variant)	See cases	GLikely pathogenic
Select item 3248631	NM_000338.3(SLC12A1):c.548T>A (p.Val183Glu)	SLC12A1 (V183E)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3243886	NC_000015.9:g.(?_48413242)_(49097846_?)del	CEP152, CTXN2 +5 more	Deletion	not provided	GPathogenic
Select item 3243860	NC_000015.9:g.(?_48556570)_(48561941_?)del	SLC12A1	Deletion	not provided	GLikely pathogenic
Select item 3243859	NC_000015.9:g.(?_48539086)_(48543987_?)dup	SLC12A1	Duplication	not provided	GLikely pathogenic
Select item 3243858	NC_000015.9:g.(?_48512811)_(48525055_?)del	SLC12A1	Deletion	not provided	GPathogenic
Select item 3243857	NC_000015.9:g.(?_48499917)_(48500356_?)del	SLC12A1	Deletion	not provided	GPathogenic
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 disorder	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=)	SLC12A1, LOC126862123	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)	not provided	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

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