ClinVar for MedGen (Select 501133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234908	NM_001177316.2(SLC34A3):c.632G>A (p.Ser211Asn)	SLC34A3 (S211N)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 3234101	NM_001177316.2(SLC34A3):c.528G>A (p.Met176Ile)	SLC34A3 (M176I)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 3066381	NM_001177316.2(SLC34A3):c.1273A>G (p.Thr425Ala)	SLC34A3 (T425A)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 2627449	NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)	SLC34A3 (L416fs)	Deletion (frameshift variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GPathogenic/Likely pathogenic
Select item 2436020	NM_001177316.2(SLC34A3):c.176-9T>G	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 2436019	NM_001177316.2(SLC34A3):c.847-26T>C	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease	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 2436017	NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)	SLC34A3 (S72del)	Deletion (inframe_deletion)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 1705377	NM_001177316.2(SLC34A3):c.1796T>A (p.Leu599Ter)	LOC130003098, SLC34A3 (L599*)	Single nucleotide variant (nonsense)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 1686208	NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val)	SLC34A3 (G406V)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GPathogenic
Select item 1678535	NM_001177316.2(SLC34A3):c.1211-3C>A	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 1674712	NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1656517	NM_001177316.2(SLC34A3):c.757-16C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1653914	NM_001177316.2(SLC34A3):c.561-9C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1636358	NM_001177316.2(SLC34A3):c.846+15C>T	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1633168	NM_001177316.2(SLC34A3):c.1093+19G>A	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GBenign/Likely benign
Select item 1598682	NM_001177316.2(SLC34A3):c.304+20C>T	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GBenign/Likely benign
Select item 1594333	NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1570480	NM_001177316.2(SLC34A3):c.1335+6G>T	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1556378	NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1553287	NM_001177316.2(SLC34A3):c.1093+8C>T	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GBenign/Likely benign
Select item 1534613	NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1534071	NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1522211	NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile)	SLC34A3 (V357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1521563	NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser)	SLC34A3 (G330S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1498325	NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr)	SLC34A3 (A355T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1489749	NM_001177316.2(SLC34A3):c.449-14C>A	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GConflicting classifications of pathogenicity
Select item 1459128	NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs)	SLC34A3 (V349fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1443292	NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr)	SLC34A3, LOC130003098 (A585T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1438804	NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp)	SLC34A3 (R182W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429383	NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu)	SLC34A3 (P472L)	Single nucleotide variant (missense variant)	SLC34A3-related condition +2 more	GUncertain significance
Select item 1422565	NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg)	SLC34A3 (M403R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406748	NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp)	SLC34A3 (R538W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395853	NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val)	SLC34A3 (A413V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1394831	NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met)	SLC34A3 (T319M)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1393795	NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg)	SLC34A3 (G478R)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 1391236	NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His)	SLC34A3 (L47H)	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 1384273	NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser)	SLC34A3 (G290S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1377080	NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp)	SLC34A3 (R536W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1370698	NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys)	SLC34A3 (R353C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355159	NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly)	SLC34A3 (S228G)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1352529	NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met)	SLC34A3 (V400M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1348289	NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu)	SLC34A3 (F395L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1346816	NM_001177316.2(SLC34A3):c.449-1G>C	SLC34A3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1332756	NM_001177316.2(SLC34A3):c.1336-11_1336-1del	SLC34A3	Deletion (splice acceptor variant)	Autosomal recessive hypophosphatemic bone disease	GPathogenic
Select item 1320799	NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala)	SLC34A3 (V153A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1179153	NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter)	SLC34A3 (Y414*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1177503	NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val)	SLC34A3 (A235V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169030	NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GBenign/Likely benign
Select item 1168370	NM_001177316.2(SLC34A3):c.1795T>C (p.Leu599=)	LOC130003098, SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1165853	NM_001177316.2(SLC34A3):c.1210+17G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1107479	NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1095979	NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1073253	NM_001177316.2(SLC34A3):c.671del (p.Leu224fs)	SLC34A3 (L224fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1066383	NM_001177316.2(SLC34A3):c.1335+2T>A	SLC34A3	Single nucleotide variant (splice donor variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GPathogenic
Select item 1066069	NM_001177316.2(SLC34A3):c.846+1G>A	SLC34A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1062467	NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met)	SLC34A3 (T396M)	Single nucleotide variant (missense variant)	not provided +1 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 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 1045731	NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup)	SLC34A3	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1042999	NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp)	SLC34A3 (R412W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1042817	NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del)	SLC34A3 (K298del)	Microsatellite (inframe_deletion)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1040697	NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del)	SLC34A3 (F453del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1040148	NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg)	SLC34A3 (G78R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1039710	NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn)	SLC34A3 (D183N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1036876	NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr)	LOC130003098, SLC34A3 (A595T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031579	NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs)	SLC34A3 (S435fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1018807	NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly)	SLC34A3 (S442G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017340	NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val)	SLC34A3 (L418V)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1014996	NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu)	SLC34A3 (V251L)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1007989	NM_001177316.2(SLC34A3):c.449-9C>G	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 999812	NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys)	SLC34A3 (R547C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 969647	NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro)	SLC34A3 (T267P)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 965879	NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile)	SLC34A3 (V379I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 964571	NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met)	SLC34A3 (L307M)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 955341	NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs)	SLC34A3 (L417fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 953675	NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu)	SLC34A3 (K110E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 942678	NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His)	SLC34A3 (L506H)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 937083	NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro)	SLC34A3 (L332P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 935089	NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val)	SLC34A3 (A502V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 934420	NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg)	SLC34A3 (G166R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930232	NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro)	SLC34A3 (L327P)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 862960	NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro)	SLC34A3 (A488P)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 862200	NM_001177316.2(SLC34A3):c.561-8G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 860969	NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)	SLC34A3 (R485C)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GConflicting classifications of pathogenicity
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 830041	NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys)	SLC34A3 (N299K)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 830033	NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala)	SLC34A3 (T278A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 829961	NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg)	SLC34A3 (Q445R)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 829929	NM_001177316.2(SLC34A3):c.560+27_561-38del	SLC34A3	Deletion (intron variant)	not provided	GUncertain significance
Select item 829928	NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter)	SLC34A3 (Y462*)	Single nucleotide variant (nonsense)	Autosomal recessive hypophosphatemic bone disease	GLikely pathogenic
Select item 829840	NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu)	SLC34A3 (A381E)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 802548	NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr)	SLC34A3 (A314T)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 795872	NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GBenign/Likely benign
Select item 779258	NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=)	SLC34A3	Single nucleotide variant (synonymous variant)	SLC34A3-related condition +2 more	GLikely benign
Select item 777839	NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 772941	NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 758995	NM_001177316.2(SLC34A3):c.1093+9G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 750192	NM_001177316.2(SLC34A3):c.312G>A (p.Val104=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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