ClinVar for MedGen (Select 462002) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701923	NM_003052.5(SLC34A1):c.690dup (p.Val231fs)	SLC34A1 (V231fs)	Duplication (frameshift variant)	Fanconi renotubular syndrome 2 +1 more	GPathogenic/Likely pathogenic
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 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 1343085	NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg)	SLC34A1 (G357R)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2	GLikely pathogenic
Select item 1333576	NM_003052.5(SLC34A1):c.1175-13G>A	SLC34A1	Single nucleotide variant (intron variant)	Fanconi renotubular syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 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)	not provided +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 983516	NM_003052.5(SLC34A1):c.909G>C (p.Gln303His)	SLC34A1 (Q303H)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2	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 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 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 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 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 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 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 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 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 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)	Fanconi renotubular syndrome 2 +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 234931	NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	SLC34A1	Deletion (inframe_deletion)	not provided +3 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 12933	NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup)	SLC34A1	Duplication (inframe_insertion)	not provided	GUncertain significance

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Items: 46