ClinVar for Gene (Select 124935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319823	NM_152346.3(SLC43A2):c.812G>C (p.Arg271Pro)	SLC43A2 (R134P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319822	NM_152346.3(SLC43A2):c.1538A>G (p.Asp513Gly)	SLC43A2 (D376G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319821	NM_152346.3(SLC43A2):c.1660A>G (p.Lys554Glu)	SLC43A2 (K417E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319819	NM_152346.3(SLC43A2):c.602A>G (p.Tyr201Cys)	SLC43A2 (Y64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319818	NM_152346.3(SLC43A2):c.1619G>A (p.Arg540His)	SLC43A2 (R544H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319817	NM_152346.3(SLC43A2):c.379G>A (p.Ala127Thr)	SLC43A2 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic
Select item 3243179	NC_000017.10:g.(?_1516489)_(1565447_?)del	PRPF8, RILP +2 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3164803	NM_152346.3(SLC43A2):c.872G>A (p.Gly291Asp)	SLC43A2 (G154D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164802	NM_152346.3(SLC43A2):c.683A>G (p.Asn228Ser)	SLC43A2 (N228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164801	NM_152346.3(SLC43A2):c.587G>A (p.Gly196Glu)	SLC43A2 (G59E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164800	NM_152346.3(SLC43A2):c.412A>C (p.Ser138Arg)	SLC43A2 (S138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164799	NM_152346.3(SLC43A2):c.1631G>T (p.Arg544Leu)	SLC43A2 (R548L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164798	NM_152346.3(SLC43A2):c.1567C>T (p.Leu523Phe)	SLC43A2 (L527F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164797	NM_152346.3(SLC43A2):c.131G>A (p.Gly44Asp)	SLC43A2 (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164796	NM_152346.3(SLC43A2):c.1238A>G (p.Lys413Arg)	SLC43A2 (K276R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164795	NM_152346.3(SLC43A2):c.1230A>C (p.Lys410Asn)	SLC43A2 (K414N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164794	NM_152346.3(SLC43A2):c.1224G>C (p.Glu408Asp)	SLC43A2 (E408D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164793	NM_152346.3(SLC43A2):c.1184C>A (p.Ala395Asp)	SLC43A2 (A399D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164792	NM_152346.3(SLC43A2):c.1030G>A (p.Ala344Thr)	SLC43A2 (A344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685592	GRCh37/hg19 17p13.3(chr17:1469988-1591788)x1	PRPF8, RILP +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2617197	NM_152346.3(SLC43A2):c.229G>A (p.Gly77Ser)	SLC43A2 (G77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610726	NM_152346.3(SLC43A2):c.406G>A (p.Gly136Arg)	SLC43A2 (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596776	NM_152346.3(SLC43A2):c.646G>A (p.Gly216Ser)	SLC43A2 (G79S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2486443	NM_152346.3(SLC43A2):c.520G>A (p.Asp174Asn)	SLC43A2 (D37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484854	NM_152346.3(SLC43A2):c.1210G>A (p.Ala404Thr)	SLC43A2 (A267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469962	NM_152346.3(SLC43A2):c.898G>A (p.Asp300Asn)	SLC43A2 (D163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456540	NM_152346.3(SLC43A2):c.860C>T (p.Ala287Val)	SLC43A2 (A150V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
Select item 2408055	NM_152346.3(SLC43A2):c.1222G>A (p.Glu408Lys)	SLC43A2 (E271K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399415	NM_152346.3(SLC43A2):c.1555G>A (p.Val519Met)	SLC43A2 (V382M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395991	NM_152346.3(SLC43A2):c.1681G>A (p.Gly561Ser)	SLC43A2 (G561S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358139	NM_152346.3(SLC43A2):c.5C>T (p.Ala2Val)	SLC43A2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355274	NM_152346.3(SLC43A2):c.1198G>A (p.Glu400Lys)	SLC43A2 (E404K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352935	NM_152346.3(SLC43A2):c.1001C>T (p.Thr334Met)	SLC43A2 (T197M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351399	NM_152346.3(SLC43A2):c.1295A>G (p.Asn432Ser)	SLC43A2 (N432S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330982	NM_152346.3(SLC43A2):c.66G>C (p.Glu22Asp)	SLC43A2 (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321782	NM_152346.3(SLC43A2):c.1264A>T (p.Thr422Ser)	SLC43A2 (T422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317290	NM_152346.3(SLC43A2):c.1514C>T (p.Ala505Val)	SLC43A2 (A509V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315887	NM_152346.3(SLC43A2):c.815G>A (p.Arg272His)	SLC43A2 (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297106	NM_152346.3(SLC43A2):c.7C>T (p.Pro3Ser)	SLC43A2 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288595	NM_152346.3(SLC43A2):c.1501C>A (p.Pro501Thr)	SLC43A2 (P501T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276711	NM_152346.3(SLC43A2):c.1285G>A (p.Ala429Thr)	SLC43A2 (A429T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224584	NM_152346.3(SLC43A2):c.983T>A (p.Leu328Gln)	SLC43A2 (L328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340305	GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3	CRK, INPP5K +8 more	Copy number gain	not provided	GPathogenic
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 1339819	GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3	ABR, BHLHA9 +10 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	Gnot provided
Select item 1328439	GRCh37/hg19 17p13.3(chr17:1145231-1499243)x1	BHLHA9, CRK +6 more	Copy number loss	not provided	GPathogenic
Select item 1048616	GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1	PRPF8, RILP +2 more	Copy number loss	See cases	GUncertain significance
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 832985	NC_000017.11:g.(?_1613195)_(1681690_?)dup	PRPF8, RILP +2 more	Duplication	not provided	GUncertain significance
Select item 816554	GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3	CRK, INPP5K +12 more	Copy number gain	not provided	GUncertain significance
Select item 816552	GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3	CRK, INPP5K +14 more	Copy number gain	not provided	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 777083	NM_152346.3(SLC43A2):c.1079-891G>A	SLC43A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 687549	GRCh37/hg19 17p13.3(chr17:1334510-1550848)x3	CRK, INPP5K +5 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564386	GRCh37/hg19 17p13.3(chr17:1505191-1722313)x3	SERPINF1, MIR22 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564385	GRCh37/hg19 17p13.3(chr17:1180644-1826928)x3	CRK, INPP5K +15 more	Copy number gain	not provided	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443656	GRCh37/hg19 17p13.3(chr17:1263628-1483869)x1	CRK, INPP5K +4 more	Copy number loss	See cases	GPathogenic
Select item 443312	GRCh37/hg19 17p13.3(chr17:936458-1483192)x3	ABR, BHLHA9 +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443246	GRCh37/hg19 17p13.3(chr17:808735-1850373)x3	ABR, BHLHA9 +20 more	Copy number gain	See cases	GLikely pathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442062	GRCh37/hg19 17p13.3(chr17:10622-1511353)x1	ABR, BHLHA9 +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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