"Ambry Genetics"[submitter] AND "SLC34A3"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2314239	NM_001177316.2(SLC34A3):c.38C>T (p.Pro13Leu)	SLC34A3 (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619380	NM_001177316.2(SLC34A3):c.68A>G (p.Lys23Arg)	SLC34A3 (K23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319549	NM_001177316.2(SLC34A3):c.96T>G (p.Ser32Arg)	SLC34A3 (S32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164297	NM_001177316.2(SLC34A3):c.142C>G (p.Pro48Ala)	SLC34A3 (P48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1378083	NM_001177316.2(SLC34A3):c.202C>T (p.Arg68Cys)	SLC34A3 (R68C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3164301	NM_001177316.2(SLC34A3):c.203G>A (p.Arg68His)	SLC34A3 (R68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164302	NM_001177316.2(SLC34A3):c.211G>A (p.Gly71Ser)	SLC34A3 (G71S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1658779	NM_001177316.2(SLC34A3):c.242G>A (p.Gly81Asp)	SLC34A3 (G81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2260038	NM_001177316.2(SLC34A3):c.286G>A (p.Ala96Thr)	SLC34A3 (A96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 953675	NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu)	SLC34A3 (K110E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1906561	NM_001177316.2(SLC34A3):c.391C>G (p.Leu131Val)	SLC34A3 (L131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2409641	NM_001177316.2(SLC34A3):c.394G>A (p.Val132Met)	SLC34A3 (V132M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967196	NM_001177316.2(SLC34A3):c.460C>T (p.Arg154Trp)	SLC34A3 (R154W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3164304	NM_001177316.2(SLC34A3):c.464T>C (p.Val155Ala)	SLC34A3 (V155A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319548	NM_001177316.2(SLC34A3):c.517C>G (p.Leu173Val)	SLC34A3 (L173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061014	NM_001177316.2(SLC34A3):c.545G>A (p.Arg182Gln)	SLC34A3 (R182Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1929322	NM_001177316.2(SLC34A3):c.578C>T (p.Ala193Val)	SLC34A3 (A193V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1386527	NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile)	SLC34A3 (T202I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3164305	NM_001177316.2(SLC34A3):c.625C>A (p.Leu209Met)	SLC34A3 (L209M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364090	NM_001177316.2(SLC34A3):c.634G>A (p.Ala212Thr)	SLC34A3 (A212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1078669	NM_001177316.2(SLC34A3):c.638C>T (p.Thr213Met)	SLC34A3 (T213M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2522513	NM_001177316.2(SLC34A3):c.644T>C (p.Leu215Pro)	SLC34A3 (L215P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 858478	NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro)	SLC34A3 (T230P)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 3164307	NM_001177316.2(SLC34A3):c.721G>A (p.Val241Met)	SLC34A3 (V241M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403316	NM_001177316.2(SLC34A3):c.751G>A (p.Val251Met)	SLC34A3 (V251M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357295	NM_001177316.2(SLC34A3):c.766G>A (p.Asp256Asn)	SLC34A3 (D256N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 969647	NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro)	SLC34A3 (T267P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2161793	NM_001177316.2(SLC34A3):c.829G>A (p.Gly277Ser)	SLC34A3 (G277S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3164308	NM_001177316.2(SLC34A3):c.853G>A (p.Glu285Lys)	SLC34A3 (E285K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1384273	NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser)	SLC34A3 (G290S)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 2542182	NM_001177316.2(SLC34A3):c.869G>A (p.Gly290Asp)	SLC34A3 (G290D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250970	NM_001177316.2(SLC34A3):c.872C>T (p.Ala291Val)	SLC34A3 (A291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1901379	NM_001177316.2(SLC34A3):c.877G>A (p.Gly293Ser)	SLC34A3 (G293S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184541	NM_001177316.2(SLC34A3):c.928C>T (p.Arg310Cys)	SLC34A3 (R310C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193755	NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His)	SLC34A3 (R310H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2297121	NM_001177316.2(SLC34A3):c.944G>T (p.Gly315Val)	SLC34A3 (G315V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331184	NM_001177316.2(SLC34A3):c.1021C>G (p.Leu341Val)	SLC34A3 (L341V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388241	NM_001177316.2(SLC34A3):c.1025T>G (p.Ile342Arg)	SLC34A3 (I342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319550	NM_001177316.2(SLC34A3):c.1046T>C (p.Val349Ala)	SLC34A3 (V349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302851	NM_001177316.2(SLC34A3):c.1052G>A (p.Arg351His)	SLC34A3 (R351H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2253611	NM_001177316.2(SLC34A3):c.1058G>A (p.Arg353His)	SLC34A3 (R353H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1498325	NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr)	SLC34A3 (A355T)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 1522211	NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile)	SLC34A3 (V357I)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 2332832	NM_001177316.2(SLC34A3):c.1103T>G (p.Phe368Cys)	SLC34A3 (F368C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142944	NM_001177316.2(SLC34A3):c.1120G>A (p.Gly374Ser)	SLC34A3 (G374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3164296	NM_001177316.2(SLC34A3):c.1141G>C (p.Ala381Pro)	SLC34A3 (A381P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488876	NM_001177316.2(SLC34A3):c.1141G>A (p.Ala381Thr)	SLC34A3 (A381T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604887	NM_001177316.2(SLC34A3):c.1147G>A (p.Ala383Thr)	SLC34A3 (A383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513020	NM_001177316.2(SLC34A3):c.1195G>A (p.Val399Ile)	SLC34A3 (V399I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1352529	NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met)	SLC34A3 (V400M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2396300	NM_001177316.2(SLC34A3):c.1246C>T (p.Leu416Phe)	SLC34A3 (L416F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436018	NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)	SLC34A3 (G423S)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 2264277	NM_001177316.2(SLC34A3):c.1353C>G (p.Phe451Leu)	SLC34A3 (F451L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393795	NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg)	SLC34A3 (G478R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1057893	NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr)	SLC34A3 (A482T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2411855	NM_001177316.2(SLC34A3):c.1447C>T (p.Arg483Cys)	SLC34A3 (R483C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319547	NM_001177316.2(SLC34A3):c.1448G>A (p.Arg483His)	SLC34A3 (R483H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213262	NM_001177316.2(SLC34A3):c.1526C>A (p.Ala509Glu)	SLC34A3 (A509E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489448	NM_001177316.2(SLC34A3):c.1537G>C (p.Glu513Gln)	SLC34A3 (E513Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291262	NM_001177316.2(SLC34A3):c.1559C>T (p.Pro520Leu)	SLC34A3 (P520L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164298	NM_001177316.2(SLC34A3):c.1579C>T (p.Leu527Phe)	SLC34A3 (L527F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377080	NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp)	SLC34A3 (R536W)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 2055991	NM_001177316.2(SLC34A3):c.1607G>A (p.Arg536Gln)	SLC34A3 (R536Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1057188	NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys)	SLC34A3 (R537C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1905652	NM_001177316.2(SLC34A3):c.1613G>A (p.Arg538Gln)	SLC34A3 (R538Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053787	NM_001177316.2(SLC34A3):c.1616C>T (p.Pro539Leu)	SLC34A3 (P539L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2534352	NM_001177316.2(SLC34A3):c.1640G>A (p.Arg547His)	SLC34A3 (R547H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 844756	NM_001177316.2(SLC34A3):c.1702C>T (p.Arg568Cys)	SLC34A3 (R568C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 593540	NM_001177316.2(SLC34A3):c.1703G>A (p.Arg568His)	SLC34A3 (R568H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 595536	NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile)	SLC34A3 (S576I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3164299	NM_001177316.2(SLC34A3):c.1730C>A (p.Pro577His)	SLC34A3 (P577H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912099	NM_001177316.2(SLC34A3):c.1733C>T (p.Pro578Leu)	SLC34A3 (P578L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1443292	NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr)	LOC130003098, SLC34A3 (A585T)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 2234621	NM_001177316.2(SLC34A3):c.1783G>C (p.Ala595Pro)	LOC130003098, SLC34A3 (A595P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 74