"GeneDx"[submitter] AND "SLC34A3"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 1213253	NM_001177316.2(SLC34A3):c.86-120C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496510	NM_001177316.2(SLC34A3):c.175+123C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1259746	NM_001177316.2(SLC34A3):c.175+185A>G	SLC34A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262864	NM_001177316.2(SLC34A3):c.176-103C>G	SLC34A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 593626	NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)	SLC34A3	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504911	NM_001177316.2(SLC34A3):c.200G>A (p.Arg67His)	SLC34A3 (R67H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 423399	NM_001177316.2(SLC34A3):c.210del (p.Gly71fs)	SLC34A3 (G71fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 284536	NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=)	SLC34A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1701010	NM_001177316.2(SLC34A3):c.316G>A (p.Gly106Arg)	SLC34A3 (G106R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 499914	NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 949511	NM_001177316.2(SLC34A3):c.413C>T (p.Ser138Phe)	SLC34A3 (S138F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445687	NM_001177316.2(SLC34A3):c.448+1G>A	SLC34A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 776485	NM_001177316.2(SLC34A3):c.477C>T (p.Ile159=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 745162	NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile)	SLC34A3 (V165I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 288891	NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)	SLC34A3 (G180A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 829929	NM_001177316.2(SLC34A3):c.560+27_561-38del	SLC34A3	Deletion (intron variant)	not provided	GUncertain significance
Select item 198610	NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	SLC34A3 (S192L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 504908	NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=)	SLC34A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1355159	NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly)	SLC34A3 (S228G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1434	NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GConflicting classifications of pathogenicity
Select item 198612	NM_001177316.2(SLC34A3):c.756+9G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 281214	NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)	SLC34A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 283344	NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn)	SLC34A3 (S260N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 284859	NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)	SLC34A3 (G264S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 969647	NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro)	SLC34A3 (T267P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 746421	NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met)	SLC34A3 (T279M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 198914	NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1704137	NM_001177316.2(SLC34A3):c.846G>T (p.Pro282=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1433	NM_001177316.2(SLC34A3):c.925+20_926-48del	SLC34A3	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1169030	NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 193754	NM_001177316.2(SLC34A3):c.1009G>A (p.Gly337Ser)	SLC34A3 (G337S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 504912	NM_001177316.2(SLC34A3):c.1094-10T>A	SLC34A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 281431	NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 193939	NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1062467	NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met)	SLC34A3 (T396M)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 719281	NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1285647	NM_001177316.2(SLC34A3):c.1335+267C>G	SLC34A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260424	NM_001177316.2(SLC34A3):c.1336-143T>C	SLC34A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1429383	NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu)	SLC34A3 (P472L)	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)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
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 1958341	NM_001177316.2(SLC34A3):c.1567G>A (p.Gly523Arg)	SLC34A3 (G523R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 949510	NM_001177316.2(SLC34A3):c.1576CTC[1] (p.Leu527del)	SLC34A3 (L527del)	Microsatellite (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 423400	NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)	SLC34A3 (W541*)	Single nucleotide variant (nonsense)	Autosomal recessive hypophosphatemic bone disease +1 more	GPathogenic/Likely pathogenic
Select item 424408	NM_001177316.2(SLC34A3):c.1653G>A (p.Trp551Ter)	SLC34A3 (W551*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 452005	NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys)	LOC130003098, SLC34A3 (E589K)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 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 194276	NM_001177316.2(SLC34A3):c.*14A>C	LOC130003098, SLC34A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1213647	NC_000009.12:g.137236568A>C	LOC130003098, SLC34A3	Single nucleotide variant	not provided	GLikely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 58