10933[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 57394	GRCh38/hg38 6q13(chr6:73479920-74931870)x1	CD109, CD109-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 357897	NM_012434.5(SLC17A5):c.*1696T>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 911492	NM_012434.5(SLC17A5):c.*1692G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357898	NM_012434.5(SLC17A5):c.*1630G>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 357899	NM_012434.5(SLC17A5):c.*1587del	SLC17A5	Deletion (3 prime UTR variant)	Salla disease	GUncertain significance
Select item 357900	NM_012434.5(SLC17A5):c.*1566G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357901	NM_012434.5(SLC17A5):c.*1565C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357902	NM_012434.5(SLC17A5):c.*1533A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357903	NM_012434.5(SLC17A5):c.*1492C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 357904	NM_012434.5(SLC17A5):c.*1450G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357906	NM_012434.5(SLC17A5):c.*1332T>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357905	NM_012434.5(SLC17A5):c.*1332del	SLC17A5	Deletion (3 prime UTR variant)	Salla disease	GUncertain significance
Select item 909373	NM_012434.5(SLC17A5):c.*1206G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909374	NM_012434.5(SLC17A5):c.*1155T>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909375	NM_012434.5(SLC17A5):c.*1056A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357907	NM_012434.5(SLC17A5):c.*971G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GBenign
Select item 910338	NM_012434.5(SLC17A5):c.*909C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GBenign
Select item 357908	NM_012434.5(SLC17A5):c.*901C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357909	NM_012434.5(SLC17A5):c.*837C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357910	NM_012434.5(SLC17A5):c.*817G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357911	NM_012434.5(SLC17A5):c.*799T>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GLikely benign
Select item 911549	NM_012434.5(SLC17A5):c.*764G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GBenign
Select item 357912	NM_012434.5(SLC17A5):c.*762C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357913	NM_012434.5(SLC17A5):c.*666C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357914	NM_012434.5(SLC17A5):c.*595C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 908593	NM_012434.5(SLC17A5):c.*588G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +2 more	GLikely benign
Select item 908594	NM_012434.5(SLC17A5):c.*587C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357915	NM_012434.5(SLC17A5):c.*560G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +2 more	GConflicting classifications of pathogenicity
Select item 909449	NM_012434.5(SLC17A5):c.*550G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 909450	NM_012434.5(SLC17A5):c.*501G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 909451	NM_012434.5(SLC17A5):c.*488G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 357916	NM_012434.5(SLC17A5):c.*478C>T	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357917	NM_012434.5(SLC17A5):c.*385C>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 357918	NM_012434.5(SLC17A5):c.*373G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Salla disease +1 more	GUncertain significance
Select item 357919	NM_012434.5(SLC17A5):c.*193A>G	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 911610	NM_012434.5(SLC17A5):c.*174G>C	SLC17A5	Single nucleotide variant (3 prime UTR variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 532055	NC_000006.11:g.(?_74304780)_(74363629_?)dup	LOC129996727, LOC132089448 +11 more	Duplication	Salla disease	GUncertain significance
Select item 1158807	NM_012434.5(SLC17A5):c.1487G>A (p.Ter496=)	SLC17A5 (E466K +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease +1 more	GLikely benign
Select item 1649957	NM_012434.5(SLC17A5):c.1482A>G (p.Arg494=)	SLC17A5 (D464G +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1389321	NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)	SLC17A5 (D464H +8 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 558418	NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)	SLC17A5 (R494fs)	Duplication (frameshift variant)	Salla disease	GUncertain significance
Select item 557554	NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)	SLC17A5 (H493fs +8 more)	Microsatellite (frameshift variant)	Salla disease	GUncertain significance
Select item 3011748	NM_012434.5(SLC17A5):c.1479C>T (p.His493=)	SLC17A5 (T463I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 3163192	NM_012434.5(SLC17A5):c.1473T>G (p.His491Gln)	SLC17A5 (H414Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108757	NM_012434.5(SLC17A5):c.1473T>C (p.His491=)	SLC17A5 (M524T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2158325	NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)	SLC17A5 (M458del +8 more)	Deletion (inframe_deletion)	Salla disease	GUncertain significance
Select item 2445840	NM_012434.5(SLC17A5):c.1454G>A (p.Trp485Ter)	SLC17A5 (G455R +8 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3014584	NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)	SLC17A5 (T454I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1114701	NM_012434.5(SLC17A5):c.1446A>T (p.Val482=)	SLC17A5 (Y452F +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1140357	NM_012434.5(SLC17A5):c.1440T>C (p.Gly480=)	SLC17A5 (V450A +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 357920	NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)	SLC17A5 (A478T)	Single nucleotide variant (missense variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 1135074	NM_012434.5(SLC17A5):c.1431C>T (p.Phe477=)	SLC17A5 (S447L +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1115691	NM_012434.5(SLC17A5):c.1428A>G (p.Leu476=)	SLC17A5 (Y446C +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 550257	NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)	SLC17A5 (F473fs)	Deletion (frameshift variant)	Salla disease	GUncertain significance
Select item 1103855	NM_012434.5(SLC17A5):c.1426C>T (p.Leu476=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease	GLikely benign
Select item 1108000	NM_012434.5(SLC17A5):c.1425A>G (p.Thr475=)	SLC17A5 (H445R +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1116024	NM_012434.5(SLC17A5):c.1422T>C (p.Phe474=)	SLC17A5 (L444S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2147859	NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)	SLC17A5 (S506C +8 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 2031927	NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=)	SLC17A5 (L502S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1561035	NM_012434.5(SLC17A5):c.1401T>C (p.Asn467=)	SLC17A5 (M437T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1487426	NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)	SLC17A5 (A386T +6 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 1674401	NM_012434.5(SLC17A5):c.1380C>T (p.Phe460=)	SLC17A5 (S430F +1 more)	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2049797	NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)	SLC17A5 (V353M +6 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 2042811	NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=)	SLC17A5 (P428L +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1931210	NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)	SLC17A5 (Q457* +6 more)	Single nucleotide variant (nonsense +1 more)	Salla disease	GUncertain significance
Select item 558449	NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)	SLC17A5 (W456*)	Single nucleotide variant (nonsense)	Salla disease	GUncertain significance
Select item 727756	NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +1 more	GLikely benign
Select item 357921	NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)	SLC17A5 (V453G)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 558174	NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	SLC17A5 (V453fs)	Insertion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 1704563	NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)	SLC17A5 (L485V +8 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1995240	NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)	SLC17A5 (N345S +8 more)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 552969	NM_012434.5(SLC17A5):c.1351-2A>G	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GUncertain significance
Select item 1155823	NM_012434.5(SLC17A5):c.1351-5T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1549603	NM_012434.5(SLC17A5):c.1351-8C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1084643	NM_012434.5(SLC17A5):c.1351-9C>A	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2903420	NM_012434.5(SLC17A5):c.1351-15dup	SLC17A5	Duplication (intron variant)	Salla disease	GBenign
Select item 1595761	NM_012434.5(SLC17A5):c.1351-15del	SLC17A5	Deletion (intron variant)	Salla disease	GBenign
Select item 1179380	NM_012434.5(SLC17A5):c.1351-23G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192927	NM_012434.5(SLC17A5):c.1351-76del	SLC17A5	Deletion (intron variant)	not provided	GLikely benign
Select item 672112	NM_012434.5(SLC17A5):c.1350+262G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2844604	NM_012434.5(SLC17A5):c.1350+15T>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 2769439	NM_012434.5(SLC17A5):c.1350+13T>G	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 1123269	NM_012434.5(SLC17A5):c.1350+8G>C	SLC17A5	Single nucleotide variant (intron variant)	Salla disease	GLikely benign
Select item 371032	NM_012434.5(SLC17A5):c.1350+1G>A	SLC17A5	Single nucleotide variant (splice donor variant +1 more)	Salla disease	GLikely pathogenic
Select item 1935059	NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)	SLC17A5 (D373G +6 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 1925856	NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2678766	NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)	SLC17A5 (T342fs +6 more)	Deletion (frameshift variant +1 more)	Salla disease	GPathogenic
Select item 1666658	NM_012434.5(SLC17A5):c.1339C>T (p.Leu447=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1437480	NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)	SLC17A5 (K416E +6 more)	Single nucleotide variant (missense variant +1 more)	Salla disease	GUncertain significance
Select item 553893	NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)	SLC17A5 (I443fs)	Duplication (frameshift variant)	Salla disease	GUncertain significance
Select item 2144921	NM_012434.5(SLC17A5):c.1326C>T (p.Val442=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 235209	NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	SLC17A5 (V442I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2163516	NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 851588	NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)	SLC17A5 (P441L)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 1613665	NM_012434.5(SLC17A5):c.1320G>C (p.Gly440=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1581057	NM_012434.5(SLC17A5):c.1320G>A (p.Gly440=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 2863680	NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign
Select item 1492082	NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)	SLC17A5 (V439A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2834793	NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease	GLikely benign

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