ClinVar for Gene (Select 6569) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164292	NM_003052.5(SLC34A1):c.818C>T (p.Pro273Leu)	SLC34A1 (P273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164291	NM_003052.5(SLC34A1):c.485G>C (p.Ser162Thr)	SLC34A1 (S162T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164290	NM_003052.5(SLC34A1):c.343G>A (p.Val115Ile)	SLC34A1 (V115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3164289	NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)	SLC34A1 (K93N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164288	NM_003052.5(SLC34A1):c.23T>C (p.Leu8Pro)	SLC34A1 (L8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164285	NM_003052.5(SLC34A1):c.1036C>T (p.Pro346Ser)	SLC34A1 (P346S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068996	NM_003052.5(SLC34A1):c.-1G>A	SLC34A1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3068343	NM_003052.5(SLC34A1):c.189del (p.Cys64fs)	SLC34A1 (C64fs)	Deletion (frameshift variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely pathogenic
Select item 3065431	NM_003052.5(SLC34A1):c.608C>A (p.Ala203Asp)	SLC34A1 (A203D)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2	GUncertain significance
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3061331	NM_003052.5(SLC34A1):c.365G>T (p.Ser122Ile)	SLC34A1 (S122I)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 3030061	NM_003052.5(SLC34A1):c.1451G>A (p.Gly484Asp)	SLC34A1 (G484D)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 3020829	NM_003052.5(SLC34A1):c.1291+13G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011992	NM_003052.5(SLC34A1):c.1417-14C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006458	NM_003052.5(SLC34A1):c.533-18C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000594	NM_003052.5(SLC34A1):c.1312G>T (p.Glu438Ter)	SLC34A1 (E438*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000033	NM_003052.5(SLC34A1):c.1816C>T (p.Arg606Cys)	SLC34A1 (R606C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995111	NM_003052.5(SLC34A1):c.389-19G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994832	NM_003052.5(SLC34A1):c.1006+8C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986059	NM_003052.5(SLC34A1):c.644+17G>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982399	NM_003052.5(SLC34A1):c.644+10G>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979280	NM_003052.5(SLC34A1):c.1416+1G>A	SLC34A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2978074	NM_003052.5(SLC34A1):c.1611C>T (p.Gly537=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975810	NM_003052.5(SLC34A1):c.1292-16C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974752	NM_003052.5(SLC34A1):c.1881T>C (p.Arg627=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964552	NM_003052.5(SLC34A1):c.636C>T (p.Asp212=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960145	NM_003052.5(SLC34A1):c.109+20C>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959271	NM_003052.5(SLC34A1):c.1509G>A (p.Ala503=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957409	NM_003052.5(SLC34A1):c.1007-16G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956601	NM_003052.5(SLC34A1):c.1174+1G>T	SLC34A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2956502	NM_003052.5(SLC34A1):c.259+14G>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914769	NM_003052.5(SLC34A1):c.316C>T (p.Leu106=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907181	NM_003052.5(SLC34A1):c.1272G>A (p.Ser424=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899940	NM_003052.5(SLC34A1):c.606G>A (p.Val202=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877677	NM_003052.5(SLC34A1):c.780C>T (p.Gly260=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877455	NM_003052.5(SLC34A1):c.644+15G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873738	NM_003052.5(SLC34A1):c.1242C>T (p.Phe414=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872638	NM_003052.5(SLC34A1):c.1467C>T (p.Tyr489=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840308	NM_003052.5(SLC34A1):c.868G>A (p.Ala290Thr)	SLC34A1 (A290T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827706	NM_003052.5(SLC34A1):c.840+2T>C	SLC34A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2804523	NM_003052.5(SLC34A1):c.645-6G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797397	NM_003052.5(SLC34A1):c.1417-7C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792859	NM_003052.5(SLC34A1):c.1007-12C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792320	NM_003052.5(SLC34A1):c.1175-7C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787950	NM_003052.5(SLC34A1):c.1646G>A (p.Gly549Glu)	SLC34A1 (G549E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786895	NM_003052.5(SLC34A1):c.259+14G>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777733	NM_003052.5(SLC34A1):c.937-16C>G	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768764	NM_003052.5(SLC34A1):c.1470G>C (p.Pro490=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766954	NM_003052.5(SLC34A1):c.1371G>C (p.Leu457=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760463	NM_003052.5(SLC34A1):c.1236_1248del (p.Met412fs)	SLC34A1 (M412fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2755601	NM_003052.5(SLC34A1):c.987A>G (p.Gly329=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751993	NM_003052.5(SLC34A1):c.825G>C (p.Thr275=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751992	NM_003052.5(SLC34A1):c.820_823del (p.Phe274fs)	SLC34A1 (F274fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2742683	NM_003052.5(SLC34A1):c.511G>A (p.Val171Ile)	SLC34A1 (V171I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2701648	NM_003052.5(SLC34A1):c.883T>C (p.Ser295Pro)	SLC34A1 (S295P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690703	NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)	SLC34A1 (R495H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2683652	NM_003052.5(SLC34A1):c.1007-1G>A	SLC34A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2636868	NM_003052.5(SLC34A1):c.1273G>C (p.Ala425Pro)	SLC34A1 (A425P)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 2634677	NM_003052.5(SLC34A1):c.620C>T (p.Ala207Val)	SLC34A1 (A207V)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 2632871	NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)	SLC34A1 (S424L)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 2632132	NM_003052.5(SLC34A1):c.936+1307G>A	LOC110121284, SLC34A1 (R326H)	Single nucleotide variant (missense variant +1 more)	SLC34A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2631139	NM_003052.5(SLC34A1):c.1706T>G (p.Leu569Arg)	SLC34A1 (L569R)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 2628632	NM_003052.5(SLC34A1):c.649T>C (p.Phe217Leu)	SLC34A1 (F217L)	Single nucleotide variant (missense variant)	SLC34A1-related condition	GUncertain significance
Select item 2613109	NM_003052.5(SLC34A1):c.610C>G (p.Leu204Val)	SLC34A1 (L204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585215	NM_003052.5(SLC34A1):c.644+5G>C	SLC34A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 2	GUncertain significance
Select item 2581903	NM_003052.5(SLC34A1):c.1139A>T (p.Gln380Leu)	SLC34A1 (Q380L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518712	NM_003052.5(SLC34A1):c.770T>A (p.Ile257Asn)	SLC34A1 (I257N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516191	NM_003052.5(SLC34A1):c.824C>T (p.Thr275Met)	SLC34A1 (T275M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2500310	NM_003052.5(SLC34A1):c.644+5G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2444148	NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)	SLC34A1 (T413I)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2	GUncertain significance
Select item 2444055	NM_003052.5(SLC34A1):c.527_528del (p.Ser176fs)	SLC34A1 (S176fs)	Microsatellite (frameshift variant)	Hypercalcemia, infantile, 2	GLikely pathogenic
Select item 2443589	NM_000505.4(F12):c.1354G>A (p.Ala452Thr)	F12, SLC34A1 (A452T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443539	NM_003052.5(SLC34A1):c.817C>A (p.Pro273Thr)	SLC34A1 (P273T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429027	NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)	SLC34A1 (I169fs)	Duplication (frameshift variant)	Fanconi renotubular syndrome 2	GLikely pathogenic
Select item 2429023	NM_003052.5(SLC34A1):c.1840G>T (p.Val614Phe)	SLC34A1 (V614F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	NOP16, PROP1 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2422122	NM_003052.5(SLC34A1):c.857T>G (p.Ile286Arg)	SLC34A1 (I286R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419505	NM_003052.5(SLC34A1):c.579C>T (p.Ile193=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419131	NM_003052.5(SLC34A1):c.472G>A (p.Val158Met)	SLC34A1 (V158M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417994	NM_003052.5(SLC34A1):c.885C>G (p.Ser295=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416187	NM_003052.5(SLC34A1):c.60G>A (p.Gly20=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415642	NM_003052.5(SLC34A1):c.1785C>T (p.Arg595=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405905	NM_003052.5(SLC34A1):c.640C>T (p.Arg214Trp)	SLC34A1 (R214W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391236	NM_003052.5(SLC34A1):c.1742G>A (p.Arg581His)	SLC34A1 (R581H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2386267	NM_003052.5(SLC34A1):c.208C>T (p.Arg70Cys)	SLC34A1 (R70C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381438	NM_003052.5(SLC34A1):c.1366A>G (p.Ile456Val)	SLC34A1 (I456V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371508	NM_003052.5(SLC34A1):c.1663G>A (p.Val555Met)	SLC34A1 (V555M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369652	NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)	SLC34A1 (R89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320548	NM_003052.5(SLC34A1):c.44C>G (p.Pro15Arg)	SLC34A1 (P15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320109	NM_003052.5(SLC34A1):c.1450G>A (p.Gly484Ser)	SLC34A1 (G484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265094	NM_003052.5(SLC34A1):c.1138C>G (p.Gln380Glu)	SLC34A1 (Q380E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264644	NM_003052.5(SLC34A1):c.1254C>A (p.Ser418Arg)	SLC34A1 (S418R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256435	NM_003052.5(SLC34A1):c.1187C>T (p.Pro396Leu)	SLC34A1 (P396L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231372	NM_003052.5(SLC34A1):c.1637C>T (p.Thr546Met)	SLC34A1 (T546M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195539	NM_003052.5(SLC34A1):c.283C>T (p.Arg95Cys)	SLC34A1 (R95C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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