ClinVar for Gene (Select 84179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319911	NM_032219.4(SLC49A3):c.337C>T (p.Arg113Cys)	SLC49A3 (R113C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319910	NM_032219.4(SLC49A3):c.412C>G (p.Leu138Val)	SLC49A3 (L138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319909	NM_032219.4(SLC49A3):c.1634C>A (p.Pro545Gln)	MYL5, SLC49A3 (P426Q +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319908	NM_032219.4(SLC49A3):c.290C>T (p.Ala97Val)	SLC49A3 (A75V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319907	NM_032219.4(SLC49A3):c.1486G>A (p.Ala496Thr)	SLC49A3 (A377T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319906	NM_032219.4(SLC49A3):c.979G>A (p.Val327Met)	SLC49A3 (V209M +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319905	NM_032219.4(SLC49A3):c.416C>T (p.Ala139Val)	SLC49A3 (A139V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319904	NM_032219.4(SLC49A3):c.1375C>G (p.Arg459Gly)	SLC49A3 (R459G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297576	NM_002477.2(MYL5):c.254T>A (p.Phe85Tyr)	MYL5, SLC49A3 (F85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297575	NM_002477.2(MYL5):c.106A>C (p.Lys36Gln)	MYL5, SLC49A3 (K36Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165000	NM_032219.4(SLC49A3):c.953G>C (p.Gly318Ala)	SLC49A3 (G221A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164999	NM_032219.4(SLC49A3):c.875C>T (p.Thr292Met)	LOC129991954, SLC49A3 (T174M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164998	NM_032219.4(SLC49A3):c.817C>T (p.Leu273Phe)	SLC49A3 (L155F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164997	NM_032219.4(SLC49A3):c.790A>G (p.Ser264Gly)	SLC49A3 (S145G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164996	NM_032219.4(SLC49A3):c.781A>T (p.Ile261Phe)	SLC49A3 (I142F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164995	NM_032219.4(SLC49A3):c.662C>T (p.Thr221Ile)	SLC49A3 (T124I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164994	NM_032219.4(SLC49A3):c.5C>T (p.Ala2Val)	SLC49A3 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164993	NM_032219.4(SLC49A3):c.584T>C (p.Met195Thr)	SLC49A3 (M195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164992	NM_032219.4(SLC49A3):c.578C>T (p.Pro193Leu)	SLC49A3 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164991	NM_032219.4(SLC49A3):c.536A>G (p.Asn179Ser)	SLC49A3 (M108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164990	NM_032219.4(SLC49A3):c.530T>G (p.Val177Gly)	SLC49A3 (V177G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164989	NM_032219.4(SLC49A3):c.523G>A (p.Val175Ile)	SLC49A3 (V175I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3164988	NM_032219.4(SLC49A3):c.499G>A (p.Ala167Thr)	SLC49A3 (A167T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164987	NM_032219.4(SLC49A3):c.490A>G (p.Asn164Asp)	SLC49A3 (N164D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164986	NM_032219.4(SLC49A3):c.406T>C (p.Cys136Arg)	SLC49A3 (C136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164984	NM_032219.4(SLC49A3):c.388A>G (p.Met130Val)	SLC49A3 (M130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164983	NM_032219.4(SLC49A3):c.356T>C (p.Val119Ala)	SLC49A3 (V119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164982	NM_032219.4(SLC49A3):c.302T>C (p.Leu101Pro)	SLC49A3 (L101P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164981	NM_032219.4(SLC49A3):c.286C>T (p.Arg96Cys)	SLC49A3 (R96C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164980	NM_032219.4(SLC49A3):c.183G>C (p.Leu61Phe)	SLC49A3 (L61F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164979	NM_032219.4(SLC49A3):c.1634C>G (p.Pro545Arg)	MYL5, SLC49A3 (P426R +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164978	NM_032219.4(SLC49A3):c.1577C>T (p.Ala526Val)	SLC49A3 (A407V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164977	NM_032219.4(SLC49A3):c.1558G>C (p.Gly520Arg)	SLC49A3 (G401R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164976	NM_032219.4(SLC49A3):c.1556A>C (p.Gln519Pro)	SLC49A3 (Q422P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164975	NM_032219.4(SLC49A3):c.1550G>A (p.Arg517His)	SLC49A3 (R420H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164974	NM_032219.4(SLC49A3):c.1522C>T (p.His508Tyr)	SLC49A3 (H508Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164973	NM_032219.4(SLC49A3):c.1451C>T (p.Pro484Leu)	SLC49A3 (P366L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164972	NM_032219.4(SLC49A3):c.139T>A (p.Trp47Arg)	SLC49A3 (W47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164971	NM_032219.4(SLC49A3):c.1391G>A (p.Gly464Asp)	SLC49A3 (G367D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164970	NM_032219.4(SLC49A3):c.1366C>T (p.Pro456Ser)	SLC49A3 (P359S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164969	NM_032219.4(SLC49A3):c.1282G>A (p.Gly428Ser)	SLC49A3 (G350S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164968	NM_032219.4(SLC49A3):c.1214C>T (p.Pro405Leu)	SLC49A3 (P308L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164967	NM_032219.4(SLC49A3):c.1159G>A (p.Glu387Lys)	SLC49A3 (E388K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164966	NM_032219.4(SLC49A3):c.1129A>G (p.Thr377Ala)	SLC49A3 (T281A +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164965	NM_032219.4(SLC49A3):c.1123G>A (p.Ala375Thr)	SLC49A3 (A278T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159471	NM_002477.2(MYL5):c.458C>T (p.Ala153Val)	LOC129991953, MYL5 +1 more (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159439	NM_002477.2(MYL5):c.208G>A (p.Asp70Asn)	MYL5, SLC49A3 (D70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159431	NM_002477.2(MYL5):c.175T>C (p.Tyr59His)	MYL5, SLC49A3 (Y59H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CTBP1, CYTL1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685955	GRCh37/hg19 4p16.3(chr4:607649-929424)x3	ATP5ME, CPLX1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2655235	GRCh37/hg19 4p16.3(chr4:619416-1107252)x3	ATP5ME, CPLX1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2607625	NM_032219.4(SLC49A3):c.157G>C (p.Val53Leu)	SLC49A3 (V53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603472	NM_032219.4(SLC49A3):c.1048G>A (p.Gly350Arg)	SLC49A3 (G253R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593068	NM_032219.4(SLC49A3):c.423C>G (p.Ser141Arg)	SLC49A3 (S141R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592350	NM_032219.4(SLC49A3):c.1337G>A (p.Arg446Gln)	SLC49A3 (R349Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589464	NM_032219.4(SLC49A3):c.374C>G (p.Pro125Arg)	SLC49A3 (P125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589271	NM_002477.2(MYL5):c.457G>C (p.Ala153Pro)	LOC129991953, MYL5 +1 more (A112P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	PPP2R2C, PROM1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2560027	NM_032219.4(SLC49A3):c.494T>C (p.Met165Thr)	SLC49A3 (M165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559261	NM_002477.2(MYL5):c.200T>C (p.Val67Ala)	MYL5, SLC49A3 (V26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556204	NM_002477.2(MYL5):c.457G>A (p.Ala153Thr)	LOC129991953, MYL5 +1 more (A112T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552461	NM_032219.4(SLC49A3):c.68A>G (p.His23Arg)	SLC49A3 (H23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551677	NM_032219.4(SLC49A3):c.26C>G (p.Thr9Arg)	SLC49A3 (T9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551427	NM_002477.2(MYL5):c.322G>A (p.Ala108Thr)	MYL5, SLC49A3 (A108T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530405	NM_002477.2(MYL5):c.25A>G (p.Lys9Glu)	MYL5, SLC49A3 (K9E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2514494	NM_032219.4(SLC49A3):c.1009G>A (p.Gly337Arg)	SLC49A3 (G219R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513218	NM_002477.2(MYL5):c.344A>T (p.Asp115Val)	MYL5, SLC49A3 (D74V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511549	NM_032219.4(SLC49A3):c.1457C>A (p.Thr486Lys)	SLC49A3 (T368K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508690	NM_032219.4(SLC49A3):c.1091C>T (p.Ala364Val)	SLC49A3 (A365V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507632	NM_032219.4(SLC49A3):c.829G>C (p.Gly277Arg)	SLC49A3 (G180R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492908	NM_032219.4(SLC49A3):c.1040C>T (p.Ser347Leu)	SLC49A3 (S229L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489647	NM_032219.4(SLC49A3):c.725T>C (p.Leu242Pro)	SLC49A3 (L123P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482107	NM_002477.2(MYL5):c.34G>A (p.Gly12Ser)	MYL5, SLC49A3 (G12S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2456475	NM_032219.4(SLC49A3):c.827G>A (p.Ser276Asn)	SLC49A3 (S158N +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455448	NM_002477.2(MYL5):c.388A>G (p.Met130Val)	MYL5, SLC49A3 (M130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423740	NC_000004.11:g.(?_520808)_(1020391_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	FAM53A, MAEA +25 more	Deletion	not provided	GUncertain significance
Select item 2370560	NM_002477.2(MYL5):c.16A>G (p.Thr6Ala)	MYL5, SLC49A3 (T6A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370334	NM_002477.2(MYL5):c.323C>T (p.Ala108Val)	MYL5, SLC49A3 (A108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344651	NM_002477.2(MYL5):c.479C>T (p.Ala160Val)	MYL5, SLC49A3 (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342656	NM_002477.2(MYL5):c.239C>T (p.Ser80Leu)	MYL5, SLC49A3 (S80L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209856	NM_002477.2(MYL5):c.137G>A (p.Arg46Gln)	MYL5, SLC49A3 (R5Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808156	GRCh37/hg19 4p16.3(chr4:600446-729427)x3	ATP5ME, MYL5 +3 more	Copy number gain	not provided	GUncertain significance

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