"SLC34A3-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041974	NM_001177316.2(SLC34A3):c.-5A>T	SLC34A3	Single nucleotide variant (5 prime UTR variant)	SLC34A3-related condition	GLikely benign
Select item 1911374	NM_001177316.2(SLC34A3):c.304+10G>A	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 724890	NM_001177316.2(SLC34A3):c.305-7G>A	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3051606	NM_001177316.2(SLC34A3):c.375C>A (p.Gly125=)	SLC34A3	Single nucleotide variant (synonymous variant)	SLC34A3-related condition	GLikely benign
Select item 197866	NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)	SLC34A3	Single nucleotide variant (synonymous variant)	SLC34A3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3031137	NM_001177316.2(SLC34A3):c.436G>A (p.Val146Met)	SLC34A3 (V146M)	Single nucleotide variant (missense variant)	SLC34A3-related condition	GUncertain significance
Select item 198276	NM_001177316.2(SLC34A3):c.449-3C>T	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3059848	NM_001177316.2(SLC34A3):c.560+35dup	SLC34A3	Duplication (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3060898	NM_001177316.2(SLC34A3):c.560+37G>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3060742	NM_001177316.2(SLC34A3):c.560+40del	SLC34A3	Deletion (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3033768	NM_001177316.2(SLC34A3):c.561-46A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3039441	NM_001177316.2(SLC34A3):c.561-41G>A	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 198610	NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	SLC34A3 (S192L)	Single nucleotide variant (missense variant)	SLC34A3-related condition +2 more	GPathogenic/Likely pathogenic
Select item 725809	NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr)	SLC34A3 (A227T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 281903	NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)	SLC34A3 (D237N)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 283344	NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn)	SLC34A3 (S260N)	Single nucleotide variant (missense variant)	SLC34A3-related condition +2 more	GBenign/Likely benign
Select item 284859	NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)	SLC34A3 (G264S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 716201	NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GBenign/Likely benign
Select item 746421	NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met)	SLC34A3 (T279M)	Single nucleotide variant (missense variant)	SLC34A3-related condition +1 more	GBenign/Likely benign
Select item 3055832	NM_001177316.2(SLC34A3):c.925+9dup	SLC34A3	Duplication (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3034438	NM_001177316.2(SLC34A3):c.925+11_925+12insGC	SLC34A3	Insertion (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3052574	NM_001177316.2(SLC34A3):c.925+20A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3052833	NM_001177316.2(SLC34A3):c.925+21A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3052436	NM_001177316.2(SLC34A3):c.925+22G>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3038942	NM_001177316.2(SLC34A3):c.925+28T>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3038723	NM_001177316.2(SLC34A3):c.925+29A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 1490705	NM_001177316.2(SLC34A3):c.925+32C>G	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 1635712	NM_001177316.2(SLC34A3):c.925+38A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 3055658	NM_001177316.2(SLC34A3):c.925+40A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 3057174	NM_001177316.2(SLC34A3):c.925+42T>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 2071764	NM_001177316.2(SLC34A3):c.925+48T>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 1897000	NM_001177316.2(SLC34A3):c.926-83G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1628896	NM_001177316.2(SLC34A3):c.926-58C>T	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 1922317	NM_001177316.2(SLC34A3):c.926-57G>A	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 3041383	NM_001177316.2(SLC34A3):c.926-42A>C	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 290779	NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3039541	NM_001177316.2(SLC34A3):c.1093+22C>T	SLC34A3	Single nucleotide variant (intron variant)	SLC34A3-related condition	GLikely benign
Select item 2181419	NM_001177316.2(SLC34A3):c.1107G>A (p.Pro369=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2707808	NM_001177316.2(SLC34A3):c.1122C>T (p.Gly374=)	SLC34A3	Single nucleotide variant (synonymous variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 730587	NM_001177316.2(SLC34A3):c.1123G>A (p.Gly375Ser)	SLC34A3 (G375S)	Single nucleotide variant (missense variant)	SLC34A3-related condition +1 more	GBenign/Likely benign
Select item 1898701	NM_001177316.2(SLC34A3):c.1161C>T (p.Phe387=)	SLC34A3	Single nucleotide variant (synonymous variant)	SLC34A3-related condition +1 more	GLikely benign
Select item 2635722	NM_001177316.2(SLC34A3):c.1409C>G (p.Pro470Arg)	SLC34A3 (P470R)	Single nucleotide variant (missense variant)	SLC34A3-related condition	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 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 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 194279	NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)	SLC34A3 (R485H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 717732	NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 502468	NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)	SLC34A3 (G495A)	Single nucleotide variant (missense variant)	SLC34A3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 444095	NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)	SLC34A3 (L521fs)	Duplication (frameshift variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GPathogenic/Likely pathogenic
Select item 194278	NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)	SLC34A3 (I529F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 500128	NM_001177316.2(SLC34A3):c.1610G>A (p.Arg537His)	SLC34A3 (R537H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1167719	NM_001177316.2(SLC34A3):c.1779C>G (p.Ile593Met)	LOC130003098, SLC34A3 (I593M)	Single nucleotide variant (missense variant)	SLC34A3-related condition +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53