ClinVar for Gene (Select 6560) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318822	NM_005072.5(SLC12A4):c.2940C>G (p.Ile980Met)	SLC12A4 (I974M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318821	NM_005072.5(SLC12A4):c.2578C>T (p.Leu860Phe)	SLC12A4 (L862F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318820	NM_005072.5(SLC12A4):c.1418T>C (p.Phe473Ser)	SLC12A4 (F475S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318819	NM_005072.5(SLC12A4):c.2271G>C (p.Lys757Asn)	SLC12A4 (K759N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318818	NM_005072.5(SLC12A4):c.3037C>A (p.Gln1013Lys)	SLC12A4 (Q1007K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318817	NM_005072.5(SLC12A4):c.2969T>C (p.Met990Thr)	SLC12A4 (M959T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318816	NM_005072.5(SLC12A4):c.2624G>A (p.Arg875Gln)	SLC12A4 (R869Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318815	NM_005072.5(SLC12A4):c.1273G>A (p.Gly425Ser)	SLC12A4 (G394S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318814	NM_005072.5(SLC12A4):c.731C>T (p.Ser244Leu)	SLC12A4 (S244L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318812	NM_005072.5(SLC12A4):c.2723T>C (p.Val908Ala)	SLC12A4 (V877A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318811	NM_005072.5(SLC12A4):c.1780C>T (p.Leu594Phe)	SLC12A4 (L563F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290244	NM_000229.2(LCAT):c.111G>A (p.Thr37=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3230708	NM_000229.2(LCAT):c.93C>G (p.Leu31=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3230699	NM_000229.2(LCAT):c.145G>A (p.Val49Ile)	LCAT, SLC12A4 (V49I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3162865	NM_005072.5(SLC12A4):c.-31A>T	LOC130059257, SLC12A4 (D24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3162864	NM_005072.5(SLC12A4):c.713C>T (p.Ser238Leu)	SLC12A4 (S238L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162863	NM_005072.5(SLC12A4):c.686C>T (p.Ala229Val)	SLC12A4 (A229V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162862	NM_005072.5(SLC12A4):c.323C>G (p.Thr108Ser)	SLC12A4 (T77S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162861	NM_005072.5(SLC12A4):c.2810G>A (p.Arg937Gln)	SLC12A4 (R906Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162860	NM_005072.5(SLC12A4):c.2795G>A (p.Arg932Gln)	SLC12A4 (R932Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162859	NM_005072.5(SLC12A4):c.2773C>T (p.Arg925Trp)	SLC12A4 (R894W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162857	NM_005072.5(SLC12A4):c.2494G>A (p.Ala832Thr)	SLC12A4 (A801T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162856	NM_005072.5(SLC12A4):c.2363A>C (p.His788Pro)	SLC12A4 (H782P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162855	NM_005072.5(SLC12A4):c.84C>T (p.Tyr28=)	SLC12A4 (T62M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3162854	NM_005072.5(SLC12A4):c.1558C>T (p.Leu520Phe)	SLC12A4 (L520F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162853	NM_005072.5(SLC12A4):c.1447C>T (p.Arg483Trp)	SLC12A4 (R485W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162852	NM_005072.5(SLC12A4):c.1393G>C (p.Val465Leu)	SLC12A4 (V467L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162851	NM_005072.5(SLC12A4):c.1147G>A (p.Ala383Thr)	SLC12A4 (A352T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162850	NM_005072.5(SLC12A4):c.1052A>G (p.Asp351Gly)	SLC12A4 (D353G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3018303	NM_000229.2(LCAT):c.144C>T (p.Pro48=)	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2646648	NM_005072.5(SLC12A4):c.2409G>A (p.Glu803=)	SLC12A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620682	NM_005072.5(SLC12A4):c.469G>A (p.Val157Met)	SLC12A4 (V151M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603470	NM_005072.5(SLC12A4):c.340G>A (p.Glu114Lys)	SLC12A4 (E114K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589756	NM_005072.5(SLC12A4):c.3001G>T (p.Asp1001Tyr)	SLC12A4 (D1001Y +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2588796	NM_005072.5(SLC12A4):c.1583G>A (p.Arg528His)	SLC12A4 (R530H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587101	NM_000229.2(LCAT):c.118G>C (p.Ala40Pro)	LCAT, SLC12A4 (A40P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2565607	NM_005072.5(SLC12A4):c.2116G>A (p.Val706Met)	SLC12A4 (V700M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554270	NM_005072.5(SLC12A4):c.31G>C (p.Gly11Arg)	SLC12A4 (G11R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2551583	NM_005072.5(SLC12A4):c.761A>T (p.Tyr254Phe)	SLC12A4 (Y223F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550911	NM_005072.5(SLC12A4):c.784A>G (p.Met262Val)	SLC12A4 (M264V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549318	NM_005072.5(SLC12A4):c.3221G>A (p.Arg1074His)	SLC12A4 (R1068H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545688	NM_005072.5(SLC12A4):c.2447G>T (p.Arg816Leu)	SLC12A4 (R810L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526788	NM_005072.5(SLC12A4):c.57C>T (p.Asn19=)	SLC12A4 (T53I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2515026	NM_000229.2(LCAT):c.10C>T (p.Pro4Ser)	LCAT, SLC12A4 (P4S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2510904	NM_005072.5(SLC12A4):c.1249G>A (p.Ala417Thr)	SLC12A4 (A417T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508175	NM_005072.5(SLC12A4):c.1384A>G (p.Thr462Ala)	SLC12A4 (T431A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491354	NM_005072.5(SLC12A4):c.2021G>A (p.Arg674His)	SLC12A4 (R674H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489400	NM_005072.5(SLC12A4):c.463C>T (p.Leu155Phe)	SLC12A4 (L157F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483140	NM_005072.5(SLC12A4):c.2035C>T (p.Arg679Trp)	SLC12A4 (R679W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474240	NM_005072.5(SLC12A4):c.2134C>T (p.Leu712Phe)	SLC12A4 (L681F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472859	NM_005072.5(SLC12A4):c.911T>C (p.Val304Ala)	SLC12A4 (V298A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468186	NM_005072.5(SLC12A4):c.2777C>T (p.Thr926Met)	SLC12A4 (T926M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465940	NM_005072.5(SLC12A4):c.2027C>T (p.Ala676Val)	SLC12A4 (A645V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462924	NM_005072.5(SLC12A4):c.3011G>A (p.Arg1004Gln)	SLC12A4 (R998Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461490	NM_005072.5(SLC12A4):c.2798C>T (p.Ser933Leu)	SLC12A4 (S935L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461240	NM_005072.5(SLC12A4):c.728C>T (p.Thr243Met)	SLC12A4 (T212M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461005	NM_005072.5(SLC12A4):c.325C>T (p.Arg109Cys)	SLC12A4 (R109C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458297	NM_005072.5(SLC12A4):c.3050G>A (p.Arg1017Gln)	SLC12A4 (R1017Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456430	NM_005072.5(SLC12A4):c.2537T>C (p.Ile846Thr)	SLC12A4 (I815T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2410199	NM_005072.5(SLC12A4):c.2597G>A (p.Arg866His)	SLC12A4 (R868H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399125	NM_005072.5(SLC12A4):c.1171G>A (p.Val391Met)	SLC12A4 (V393M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397418	NM_005072.5(SLC12A4):c.1972G>A (p.Glu658Lys)	SLC12A4 (E652K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383268	NM_005072.5(SLC12A4):c.1726A>G (p.Met576Val)	SLC12A4 (M570V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379750	NM_005072.5(SLC12A4):c.393T>A (p.Asn131Lys)	SLC12A4 (N100K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376433	NM_005072.5(SLC12A4):c.2623C>T (p.Arg875Trp)	SLC12A4 (R869W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375311	NM_005072.5(SLC12A4):c.3232C>T (p.Arg1078Cys)	SLC12A4 (R1047C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368144	NM_005072.5(SLC12A4):c.2882G>A (p.Arg961Gln)	SLC12A4 (R955Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363795	NM_005072.5(SLC12A4):c.-65G>A	LOC130059257, SLC12A4 (G13R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362983	NM_005072.5(SLC12A4):c.1318C>T (p.Arg440Cys)	SLC12A4 (R442C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357349	NM_005072.5(SLC12A4):c.1430T>C (p.Ile477Thr)	SLC12A4 (I479T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353893	NM_005072.5(SLC12A4):c.2443G>A (p.Val815Met)	SLC12A4 (V809M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341153	NM_005072.5(SLC12A4):c.1627C>T (p.Arg543Trp)	SLC12A4 (R512W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338513	NM_005072.5(SLC12A4):c.2905G>A (p.Glu969Lys)	SLC12A4 (E969K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335964	NM_005072.5(SLC12A4):c.2440A>G (p.Thr814Ala)	SLC12A4 (T816A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333716	NM_005072.5(SLC12A4):c.2495C>T (p.Ala832Val)	SLC12A4 (A801V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319808	NM_005072.5(SLC12A4):c.2567G>A (p.Gly856Asp)	SLC12A4 (G856D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303753	NM_005072.5(SLC12A4):c.66G>T (p.Gly22=)	SLC12A4 (G56V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2296917	NM_005072.5(SLC12A4):c.-22G>T	LOC130059257, SLC12A4 (C27F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294910	NM_005072.5(SLC12A4):c.2399G>A (p.Arg800Gln)	SLC12A4 (R769Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294303	NM_005072.5(SLC12A4):c.2036G>A (p.Arg679Gln)	SLC12A4 (R648Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243425	NM_005072.5(SLC12A4):c.532G>A (p.Gly178Ser)	SLC12A4 (G172S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233375	NM_005072.5(SLC12A4):c.2900C>T (p.Ser967Leu)	SLC12A4 (S969L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218828	NM_005072.5(SLC12A4):c.1933G>A (p.Ala645Thr)	SLC12A4 (A639T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215081	NM_005072.5(SLC12A4):c.2837G>A (p.Arg946Gln)	SLC12A4 (R940Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213135	NM_005072.5(SLC12A4):c.724G>A (p.Asp242Asn)	SLC12A4 (D242N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208940	NM_005072.5(SLC12A4):c.3206G>A (p.Arg1069Gln)	SLC12A4 (R1071Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205807	NM_005072.5(SLC12A4):c.2873C>T (p.Ser958Leu)	SLC12A4 (S927L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1969478	NM_000229.2(LCAT):c.23G>A (p.Trp8Ter)	LCAT, SLC12A4 (W8*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1949476	NM_000229.2(LCAT):c.13G>A (p.Gly5Ser)	LCAT, SLC12A4 (G5S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1939871	NM_000229.2(LCAT):c.154+15G>A	LCAT, SLC12A4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1933383	NM_000229.2(LCAT):c.107C>T (p.Thr36Ile)	LCAT, SLC12A4 (T36I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1782261	NM_000229.2(LCAT):c.18C>A (p.Ser6=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1771007	NM_000229.2(LCAT):c.136A>T (p.Thr46Ser)	LCAT, SLC12A4 (T46S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1769360	NM_000229.2(LCAT):c.12C>T (p.Pro4=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1766826	NM_000229.2(LCAT):c.93C>T (p.Leu31=)	LCAT, SLC12A4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1765423	NM_000229.2(LCAT):c.8C>T (p.Pro3Leu)	LCAT, SLC12A4 (P3L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity

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