Related gene-specific medical variations for Gene (Select 142680) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245385	NC_000009.11:g.(?_140129039)_(140129203_?)dup	SLC34A3	Duplication	not provided	GLikely pathogenic
Select item 3239484	NM_001177316.2(SLC34A3):c.1765G>T (p.Glu589Ter)	LOC130003098, SLC34A3 (E589*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2963546	NM_001177316.2(SLC34A3):c.1767G>A (p.Glu589=)	LOC130003098, SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2436017	NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)	SLC34A3 (S72del)	Deletion (inframe_deletion)	Autosomal recessive hypophosphatemic bone disease	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
Select item 1946490	NM_001177316.2(SLC34A3):c.1776G>C (p.Glu592Asp)	LOC130003098, SLC34A3 (E592D)	Single nucleotide variant (missense variant)	not provided	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 1705043	NM_001177316.2(SLC34A3):c.*14A>T	LOC130003098, SLC34A3	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1650917	NM_001177316.2(SLC34A3):c.1764C>T (p.Tyr588=)	LOC130003098, SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1318766	NM_001177316.2(SLC34A3):c.1785dup (p.Ser596fs)	LOC130003098, SLC34A3 (S596fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 1167719	NM_001177316.2(SLC34A3):c.1779C>G (p.Ile593Met)	LOC130003098, SLC34A3 (I593M)	Single nucleotide variant (missense variant)	SLC34A3-related disorder +1 more	GBenign/Likely benign
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 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 810483	NM_001177316.2(SLC34A3):c.85G>A (p.Gly29Arg)	SLC34A3 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591121	NM_001177316.2(SLC34A3):c.1601_1633dup (p.Leu534_Val544dup)	SLC34A3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 452005	NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys)	LOC130003098, SLC34A3 (E589K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194276	NM_001177316.2(SLC34A3):c.*14A>C	LOC130003098, SLC34A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 64505	NM_001177316.2(SLC34A3):c.585C>T (p.His195=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64504	NM_001177316.2(SLC34A3):c.572G>A (p.Gly191Asp)	SLC34A3 (G191D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64503	NM_001177316.2(SLC34A3):c.516C>G (p.Thr172=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64502	NM_001177316.2(SLC34A3):c.472C>T (p.Pro158Ser)	SLC34A3 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64501	NM_001177316.2(SLC34A3):c.439G>A (p.Ala147Thr)	SLC34A3 (A147T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64500	NM_001177316.2(SLC34A3):c.245G>T (p.Ser82Ile)	SLC34A3 (S82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64499	NM_001177316.2(SLC34A3):c.218T>C (p.Val73Ala)	SLC34A3 (V73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64497	NM_001177316.2(SLC34A3):c.1051C>T (p.Arg351Cys)	SLC34A3 (R351C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 29