10997[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 148388	GRCh38/hg38 1q21.3(chr1:153752331-153897529)x1	GATAD2B, INTS3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic
Select item 2393711	NM_024330.2(SLC27A3):c.259C>T (p.Arg87Cys)	SLC27A3 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338173	NM_024330.2(SLC27A3):c.284A>C (p.Lys95Thr)	SLC27A3 (K95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319366	NM_024330.4(SLC27A3):c.-75G>A	SLC27A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319364	NM_024330.4(SLC27A3):c.-51A>T	SLC27A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362838	NM_024330.4(SLC27A3):c.-27A>C	SLC27A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358409	NM_024330.4(SLC27A3):c.-20C>G	SLC27A3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2390558	NM_024330.4(SLC27A3):c.65T>G (p.Leu22Arg)	SLC27A3 (L22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639351	NM_024330.4(SLC27A3):c.112C>A (p.Arg38=)	SLC27A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639352	NM_024330.4(SLC27A3):c.130A>G (p.Arg44Gly)	SLC27A3 (R44G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3319368	NM_024330.4(SLC27A3):c.131G>A (p.Arg44Lys)	SLC27A3 (R44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212369	NM_024330.4(SLC27A3):c.170A>C (p.Asp57Ala)	SLC27A3 (D57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156246	NM_024330.4(SLC27A3):c.188G>T (p.Gly63Val)	SLC27A3 (G63V)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2558858	NM_024330.4(SLC27A3):c.245C>G (p.Thr82Ser)	SLC27A3 (T82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541983	NM_024330.4(SLC27A3):c.269G>T (p.Arg90Leu)	SLC27A3 (R90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254334	NM_024330.4(SLC27A3):c.283G>A (p.Glu95Lys)	SLC27A3 (E95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328307	NM_024330.4(SLC27A3):c.292C>A (p.Arg98Ser)	SLC27A3 (R98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348013	NM_024330.4(SLC27A3):c.313C>T (p.Arg105Cys)	SLC27A3 (R105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163964	NM_024330.4(SLC27A3):c.352G>A (p.Asp118Asn)	SLC27A3 (D118N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208373	NM_024330.4(SLC27A3):c.368G>A (p.Gly123Asp)	SLC27A3 (G123D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476984	NM_024330.4(SLC27A3):c.380C>T (p.Ala127Val)	SLC27A3 (A127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163965	NM_024330.4(SLC27A3):c.437C>T (p.Ala146Val)	SLC27A3 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284017	NM_024330.4(SLC27A3):c.454G>T (p.Asp152Tyr)	SLC27A3 (D152Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284018	NM_024330.4(SLC27A3):c.455A>C (p.Asp152Ala)	SLC27A3 (D152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163966	NM_024330.4(SLC27A3):c.456C>A (p.Asp152Glu)	SLC27A3 (D152E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478096	NM_024330.4(SLC27A3):c.520C>T (p.Leu174Phe)	SLC27A3 (L174F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163967	NM_024330.4(SLC27A3):c.572G>C (p.Gly191Ala)	SLC27A3 (G191A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533678	NM_024330.4(SLC27A3):c.602T>C (p.Leu201Pro)	SLC27A3 (L201P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211183	NM_024330.4(SLC27A3):c.608G>A (p.Arg203Gln)	SLC27A3 (R203Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355720	NM_024330.4(SLC27A3):c.631C>T (p.Arg211Cys)	SLC27A3 (R211C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163968	NM_024330.4(SLC27A3):c.650C>T (p.Ala217Val)	SLC27A3 (A217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156247	NM_024330.4(SLC27A3):c.667+24C>T	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 156248	NM_024330.4(SLC27A3):c.668-24C>T	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3163969	NM_024330.4(SLC27A3):c.722A>C (p.His241Pro)	SLC27A3 (H241P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639353	NM_024330.4(SLC27A3):c.768T>C (p.Asp256=)	SLC27A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3163942	NM_024330.4(SLC27A3):c.863C>T (p.Thr288Ile)	SLC27A3 (T288I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156240	NM_024330.4(SLC27A3):c.878-24C>T	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3163944	NM_024330.4(SLC27A3):c.901A>C (p.Ser301Arg)	SLC27A3 (S301R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 982100	NM_024330.4(SLC27A3):c.1037-28C>T	SLC27A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982101	NM_024330.4(SLC27A3):c.1037-26T>C	SLC27A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2478703	NM_024330.4(SLC27A3):c.1126G>C (p.Gly376Arg)	SLC27A3 (G376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303422	NM_024330.4(SLC27A3):c.1129G>A (p.Glu377Lys)	SLC27A3 (E377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163945	NM_024330.4(SLC27A3):c.1145T>C (p.Leu382Pro)	SLC27A3 (L382P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319367	NM_024330.4(SLC27A3):c.1148T>C (p.Val383Ala)	SLC27A3 (V383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156241	NM_024330.4(SLC27A3):c.1161+5G>A	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2312444	NM_024330.4(SLC27A3):c.1211T>C (p.Leu404Pro)	SLC27A3 (L404P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507867	NM_024330.4(SLC27A3):c.1213C>T (p.Arg405Cys)	SLC27A3 (R405C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163946	NM_024330.4(SLC27A3):c.1241G>A (p.Arg414Gln)	SLC27A3 (R414Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351519	NM_024330.4(SLC27A3):c.1249G>A (p.Gly417Arg)	SLC27A3 (G417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163947	NM_024330.4(SLC27A3):c.1252C>T (p.Pro418Ser)	SLC27A3 (P418S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163948	NM_024330.4(SLC27A3):c.1256T>A (p.Leu419Gln)	SLC27A3 (L419Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605070	NM_024330.4(SLC27A3):c.1261G>C (p.Val421Leu)	SLC27A3 (V421L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271863	NM_024330.4(SLC27A3):c.1301C>T (p.Thr434Ile)	SLC27A3 (T434I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163949	NM_024330.4(SLC27A3):c.1324G>A (p.Gly442Ser)	SLC27A3 (G442S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319362	NM_024330.4(SLC27A3):c.1334G>A (p.Gly445Glu)	SLC27A3 (G445E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354107	NM_024330.4(SLC27A3):c.1337G>A (p.Arg446His)	SLC27A3 (R446H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163950	NM_024330.4(SLC27A3):c.1366C>T (p.Pro456Ser)	SLC27A3 (P456S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163951	NM_024330.4(SLC27A3):c.1382G>A (p.Arg461His)	SLC27A3 (R461H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163952	NM_024330.4(SLC27A3):c.1385A>G (p.Tyr462Cys)	SLC27A3 (Y462C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163953	NM_024330.4(SLC27A3):c.1430G>A (p.Cys477Tyr)	SLC27A3 (C477Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639354	NM_024330.4(SLC27A3):c.1436C>T (p.Ala479Val)	SLC27A3 (A479V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 156243	NM_024330.4(SLC27A3):c.1447+1G>A	SLC27A3	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 156242	NM_024330.4(SLC27A3):c.1447+19G>A	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2377073	NM_024330.4(SLC27A3):c.1580G>A (p.Gly527Glu)	SLC27A3 (G527E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163954	NM_024330.4(SLC27A3):c.1583A>C (p.Asp528Ala)	SLC27A3 (D528A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595604	NM_024330.4(SLC27A3):c.1616G>A (p.Arg539His)	SLC27A3 (R539H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163955	NM_024330.4(SLC27A3):c.1618T>C (p.Phe540Leu)	SLC27A3 (F540L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163956	NM_024330.4(SLC27A3):c.1627C>T (p.Arg543Cys)	SLC27A3 (R543C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293270	NM_024330.4(SLC27A3):c.1651A>C (p.Lys551Gln)	SLC27A3 (K551Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163957	NM_024330.4(SLC27A3):c.1657G>A (p.Glu553Lys)	SLC27A3 (E553K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163958	NM_024330.4(SLC27A3):c.1678G>A (p.Val560Met)	SLC27A3 (V560M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469642	NM_024330.4(SLC27A3):c.1722C>A (p.Asn574Lys)	SLC27A3 (N574K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350727	NM_024330.4(SLC27A3):c.1724T>C (p.Val575Ala)	SLC27A3 (V575A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163959	NM_024330.4(SLC27A3):c.1738G>C (p.Val580Leu)	SLC27A3 (V580L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360342	NM_024330.4(SLC27A3):c.1749T>G (p.His583Gln)	SLC27A3 (H583Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163960	NM_024330.4(SLC27A3):c.1757G>A (p.Arg586Lys)	SLC27A3 (R586K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564677	NM_024330.4(SLC27A3):c.1795G>A (p.Ala599Thr)	SLC27A3 (A599T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240211	NM_024330.4(SLC27A3):c.1796C>T (p.Ala599Val)	SLC27A3 (A599V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478415	NM_024330.4(SLC27A3):c.1820C>T (p.Thr607Ile)	SLC27A3 (T607I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163961	NM_024330.4(SLC27A3):c.1825G>A (p.Val609Met)	SLC27A3 (V609M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319361	NM_024330.4(SLC27A3):c.1843C>T (p.Pro615Ser)	SLC27A3 (P615S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379412	NM_024330.4(SLC27A3):c.1852C>T (p.Arg618Trp)	SLC27A3 (R618W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156244	NM_024330.4(SLC27A3):c.1875+15C>A	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 156245	NM_024330.4(SLC27A3):c.1876-11C>G	SLC27A3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2336549	NM_024330.4(SLC27A3):c.1878G>T (p.Glu626Asp)	SLC27A3 (E626D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319363	NM_024330.4(SLC27A3):c.1891A>G (p.Thr631Ala)	SLC27A3 (T631A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594567	NM_024330.4(SLC27A3):c.1906C>A (p.Gln636Lys)	SLC27A3 (Q636K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319365	NM_024330.4(SLC27A3):c.1948A>G (p.Thr650Ala)	SLC27A3 (T650A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2212718	NM_024330.4(SLC27A3):c.1969G>A (p.Val657Ile)	SLC27A3 (V657I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2354838	NM_024330.4(SLC27A3):c.2024C>T (p.Ala675Val)	SLC27A3 (A675V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163962	NM_024330.4(SLC27A3):c.2026C>A (p.Leu676Ile)	SLC27A3 (L641I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163963	NM_024330.4(SLC27A3):c.2032G>A (p.Ala678Thr)	SLC27A3 (A678T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRABP2, LCE2A +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance

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