SLC34A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130003003, LOC130003004 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 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 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC126860789, LOC126860790 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	LOC108254695, LOC108281113 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
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 496507	NM_001177316.2(SLC34A3):c.-40+71G>A	SLC34A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 496511	NM_001177316.2(SLC34A3):c.-39-94C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3020355	NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr)	SLC34A3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1008911	NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile)	SLC34A3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192103	NM_001177316.2(SLC34A3):c.5C>T (p.Pro2Leu)	SLC34A3 (P2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534613	NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 1897849	NM_001177316.2(SLC34A3):c.19G>A (p.Gly7Ser)	SLC34A3 (G7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314239	NM_001177316.2(SLC34A3):c.38C>T (p.Pro13Leu)	SLC34A3 (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2906734	NM_001177316.2(SLC34A3):c.39C>A (p.Pro13=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036728	NM_001177316.2(SLC34A3):c.64G>A (p.Glu22Lys)	SLC34A3 (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619380	NM_001177316.2(SLC34A3):c.68A>G (p.Lys23Arg)	SLC34A3 (K23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2843905	NM_001177316.2(SLC34A3):c.81T>C (p.Asn27=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2076809	NM_001177316.2(SLC34A3):c.85+7G>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036139	NM_001177316.2(SLC34A3):c.85+14C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535381	NM_001177316.2(SLC34A3):c.85+18G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213253	NM_001177316.2(SLC34A3):c.86-120C>T	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1092843	NM_001177316.2(SLC34A3):c.90C>G (p.Thr30=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025562	NM_001177316.2(SLC34A3):c.117A>G (p.Glu39=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652388	NM_001177316.2(SLC34A3):c.120G>C (p.Gly40=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800140	NM_001177316.2(SLC34A3):c.129C>T (p.Asp43=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391236	NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His)	SLC34A3 (L47H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 835431	NM_001177316.2(SLC34A3):c.143del (p.Pro48fs)	SLC34A3 (P48fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2963665	NM_001177316.2(SLC34A3):c.144T>C (p.Pro48=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1459125	NM_001177316.2(SLC34A3):c.145C>T (p.Gln49Ter)	SLC34A3 (Q49*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 746148	NM_001177316.2(SLC34A3):c.153G>A (p.Lys51=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845406	NM_001177316.2(SLC34A3):c.175+1G>T	SLC34A3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2093120	NM_001177316.2(SLC34A3):c.175+4G>A	SLC34A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906221	NM_001177316.2(SLC34A3):c.175+17C>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 1567510	NM_001177316.2(SLC34A3):c.176-16T>A	SLC34A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674926	NM_001177316.2(SLC34A3):c.176-12_176-11del	SLC34A3	Deletion (intron 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 950226	NM_001177316.2(SLC34A3):c.179_199del (p.Leu60_Leu66del)	SLC34A3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1045731	NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup)	SLC34A3	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 593626	NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)	SLC34A3	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2892968	NM_001177316.2(SLC34A3):c.181C>T (p.Arg61Cys)	SLC34A3 (R61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143402	NM_001177316.2(SLC34A3):c.183C>A (p.Arg61=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175881	NM_001177316.2(SLC34A3):c.184G>A (p.Val62Met)	SLC34A3 (V62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969901	NM_001177316.2(SLC34A3):c.189C>T (p.Ala63=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906394	NM_001177316.2(SLC34A3):c.189C>G (p.Ala63=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993698	NM_001177316.2(SLC34A3):c.194G>A (p.Arg65Lys)	SLC34A3 (R65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926568	NM_001177316.2(SLC34A3):c.197T>G (p.Leu66Arg)	SLC34A3 (L66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921634	NM_001177316.2(SLC34A3):c.198G>A (p.Leu66=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929728	NM_001177316.2(SLC34A3):c.199C>T (p.Arg67Cys)	SLC34A3 (R67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923079	NM_001177316.2(SLC34A3):c.200G>T (p.Arg67Leu)	SLC34A3 (R67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1898481	NM_001177316.2(SLC34A3):c.202C>G (p.Arg68Gly)	SLC34A3 (R68G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378083	NM_001177316.2(SLC34A3):c.202C>T (p.Arg68Cys)	SLC34A3 (R68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556378	NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GLikely benign
Select item 756306	NM_001177316.2(SLC34A3):c.207G>A (p.Val69=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423399	NM_001177316.2(SLC34A3):c.210del (p.Gly71fs)	SLC34A3 (G71fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1156738	NM_001177316.2(SLC34A3):c.210C>T (p.Ala70=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2169273	NM_001177316.2(SLC34A3):c.217G>A (p.Val73Ile)	SLC34A3 (V73I)	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 1430	NM_001177316.2(SLC34A3):c.228del (p.Cys77fs)	SLC34A3 (C77fs)	Deletion (frameshift variant)	Autosomal recessive hypophosphatemic bone disease	GPathogenic
Select item 1040148	NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg)	SLC34A3 (G78R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192306	NM_001177316.2(SLC34A3):c.240C>T (p.Leu80=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658779	NM_001177316.2(SLC34A3):c.242G>A (p.Gly81Asp)	SLC34A3 (G81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2180951	NM_001177316.2(SLC34A3):c.266C>T (p.Ser89Phe)	SLC34A3 (S89F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2260038	NM_001177316.2(SLC34A3):c.286G>A (p.Ala96Thr)	SLC34A3 (A96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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