ClinVar for MedGen (Select 436776) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068343	NM_003052.5(SLC34A1):c.189del (p.Cys64fs)	SLC34A1 (C64fs)	Deletion (frameshift variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely pathogenic
Select item 1679240	NM_003052.5(SLC34A1):c.937-2A>C	SLC34A1	Single nucleotide variant (splice acceptor variant)	Hypercalcemia, infantile, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1627633	NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1592526	NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 2 +3 more	GLikely benign
Select item 1510792	NM_003052.5(SLC34A1):c.56G>A (p.Arg19His)	SLC34A1 (R19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1450655	NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)	SLC34A1 (M24I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1384994	NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro)	SLC34A1 (L520P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1380042	NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met)	SLC34A1 (V415M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1374399	NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala)	SLC34A1 (D209A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1363004	NM_003052.5(SLC34A1):c.409_411del (p.Phe137del)	SLC34A1 (F137del)	Deletion (inframe_deletion)	Hypercalcemia, infantile, 2 +3 more	GUncertain significance
Select item 1179157	GRCh37/hg19 5q35.3(chr5:176812675-176813587)	SLC34A1	Copy number loss	Fanconi renotubular syndrome 2 +2 more	GPathogenic
Select item 1168138	NM_003052.5(SLC34A1):c.389-20C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1149113	NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GLikely benign
Select item 1130822	NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)	SLC34A1	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 2 +3 more	GLikely benign
Select item 1108868	NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1088560	NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)	SLC34A1	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 2 +3 more	GLikely benign
Select item 1058648	NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr)	SLC34A1 (I473T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1055796	NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His)	SLC34A1 (D347H)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GUncertain significance
Select item 1050980	NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser)	SLC34A1 (G194S)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2 +4 more	GUncertain significance
Select item 1044646	NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp)	SLC34A1 (R564W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1018684	NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr)	SLC34A1 (D209Y)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2 +3 more	GUncertain significance
Select item 1016508	NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val)	SLC34A1 (A218V)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2 +3 more	GUncertain significance
Select item 961748	NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile)	SLC34A1 (V542I)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2 +3 more	GUncertain significance
Select item 954131	NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser)	SLC34A3 (G166S)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 940197	NM_003052.5(SLC34A1):c.645G>A (p.Arg215=)	SLC34A1	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 2 +3 more	GUncertain significance
Select item 929955	NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)	SLC34A1 (R249*)	Single nucleotide variant (nonsense)	Fanconi renotubular syndrome 2 +3 more	GLikely pathogenic
Select item 907756	NM_003052.5(SLC34A1):c.*505C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 907755	NM_003052.5(SLC34A1):c.*431C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GBenign
Select item 907754	NM_003052.5(SLC34A1):c.*406C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 907704	NM_003052.5(SLC34A1):c.1174+9C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely benign
Select item 906757	NM_003052.5(SLC34A1):c.*331A>G	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 906756	NM_003052.5(SLC34A1):c.*315C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GBenign
Select item 906755	NM_003052.5(SLC34A1):c.*301T>C	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 906754	NM_003052.5(SLC34A1):c.*241C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 906677	NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln)	SLC34A1 (R215Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905165	NM_003052.5(SLC34A1):c.*212G>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 905164	NM_003052.5(SLC34A1):c.*196C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 905163	NM_003052.5(SLC34A1):c.*65G>A	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 905096	NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr)	SLC34A1 (A133T)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely benign
Select item 905095	NM_003052.5(SLC34A1):c.315A>C (p.Pro105=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 904366	NM_003052.5(SLC34A1):c.*52C>T	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 904365	NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys)	SLC34A1 (Y489C)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +2 more	GUncertain significance
Select item 904364	NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 2 +3 more	GLikely benign
Select item 904292	NM_003052.5(SLC34A1):c.94G>A (p.Val32Met)	SLC34A1 (V32M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 904291	NM_003052.5(SLC34A1):c.74G>A (p.Arg25Gln)	SLC34A1 (R25Q)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 780592	NM_003052.5(SLC34A1):c.388+10G>C	SLC34A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 737516	NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)	SLC34A1	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 2 +3 more	GLikely benign
Select item 733654	NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 548680	NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)	SLC34A1 (L179P)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2 +3 more	GUncertain significance
Select item 548678	NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)	SLC34A1 (G402R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 438690	NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)	SLC34A1 (V202M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 433538	NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter)	SLC34A1 (Q312*)	Single nucleotide variant (nonsense)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GPathogenic
Select item 422006	NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)	SLC34A1 (R25*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 352985	NM_003052.5(SLC34A1):c.*485G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352984	NM_003052.5(SLC34A1):c.*392A>G	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352983	NM_003052.5(SLC34A1):c.*361T>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352982	NM_003052.5(SLC34A1):c.*323G>A	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352981	NM_003052.5(SLC34A1):c.*239C>A	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GUncertain significance
Select item 352980	NM_003052.5(SLC34A1):c.*202A>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GBenign
Select item 352979	NM_003052.5(SLC34A1):c.*179G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352978	NM_003052.5(SLC34A1):c.*79G>C	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352977	NM_003052.5(SLC34A1):c.*60G>A	SLC34A1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352976	NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 352975	NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	F12, SLC34A1 (H568Y)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +4 more	GBenign/Likely benign
Select item 352974	NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	SLC34A1, F12	Single nucleotide variant (synonymous variant)	Hereditary angioneurotic edema +4 more	GBenign
Select item 352973	NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	F12, SLC34A1 (R495C)	Single nucleotide variant (missense variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GConflicting classifications of pathogenicity
Select item 352972	NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu)	SLC34A1 (P490L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352971	NM_003052.5(SLC34A1):c.1416+5G>A	SLC34A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 2 +2 more	GConflicting classifications of pathogenicity
Select item 352970	NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)	SLC34A1 (G450S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 352969	NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GBenign/Likely benign
Select item 352968	NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met)	SLC34A1 (T391M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352967	NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr)	SLC34A1 (S295T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352966	NM_003052.5(SLC34A1):c.782G>A (p.Arg261His)	SLC34A1 (R261H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 352965	NM_003052.5(SLC34A1):c.774T>C (p.His258=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +4 more	GBenign
Select item 352964	NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 352963	NM_003052.5(SLC34A1):c.654G>A (p.Ala218=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 352962	NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GBenign/Likely benign
Select item 352961	NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu)	SLC34A1 (P146L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352960	NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)	SLC34A1 (A133V)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +4 more	GLikely benign
Select item 352959	NM_003052.5(SLC34A1):c.389-5C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GBenign/Likely benign
Select item 352958	NM_003052.5(SLC34A1):c.260-4C>A	SLC34A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 352957	NM_003052.5(SLC34A1):c.260-14C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 352956	NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser)	SLC34A1 (P75S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 352955	NM_003052.5(SLC34A1):c.123C>T (p.Ile41=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely benign
Select item 352954	NM_003052.5(SLC34A1):c.110-6C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352953	NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp)	SLC34A1 (G9W)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 352952	NM_003052.5(SLC34A1):c.-11G>C	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GBenign
Select item 352951	NM_003052.5(SLC34A1):c.-48G>C	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352950	NM_003052.5(SLC34A1):c.-68G>A	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 252613	NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)	SLC34A1 (R95H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 234931	NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	SLC34A1	Deletion (inframe_deletion)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 234928	NM_003052.5(SLC34A1):c.1006+1G>A	SLC34A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234927	NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)	SLC34A1 (G153V)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +4 more	GLikely pathogenic
Select item 64523	NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)	SLC34A1 (R638C)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2 +2 more	GUncertain significance
Select item 12932	NM_003052.5(SLC34A1):c.439G>A (p.Val147Met)	SLC34A1 (V147M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12931	NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe)	SLC34A1 (A48F)	Indel (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GPathogenic

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Items: 96