25706[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 155326	GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1	FA2H, LOC125177351 +12 more	Copy number loss	See cases	GLikely benign
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 780186	NM_030581.4(WDR59):c.2886C>T (p.Thr962=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383303	NM_030581.4(WDR59):c.2819C>A (p.Thr940Asn)	WDR59 (T385N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190132	NM_030581.4(WDR59):c.2806A>G (p.Asn936Asp)	WDR59 (N936D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483820	NM_030581.4(WDR59):c.2801C>T (p.Ser934Leu)	WDR59 (S379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190131	NM_030581.4(WDR59):c.2747T>C (p.Ile916Thr)	WDR59 (I361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521963	NM_030581.4(WDR59):c.2735C>T (p.Thr912Met)	WDR59 (T357M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212192	NM_030581.4(WDR59):c.2717G>A (p.Arg906Gln)	WDR59 (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2510167	NM_030581.4(WDR59):c.2683G>C (p.Gly895Arg)	WDR59 (G340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190130	NM_030581.4(WDR59):c.2665C>T (p.Pro889Ser)	WDR59 (P334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250660	NM_030581.4(WDR59):c.2509C>T (p.Arg837Cys)	WDR59 (R837C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785539	NM_030581.4(WDR59):c.2407G>T (p.Gly803Cys)	WDR59 (G803C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2290506	NM_030581.4(WDR59):c.2312G>A (p.Arg771His)	WDR59 (R216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190129	NM_030581.4(WDR59):c.2311C>T (p.Arg771Cys)	WDR59 (R216C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780187	NM_030581.4(WDR59):c.2307T>C (p.Pro769=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3190128	NM_030581.4(WDR59):c.2219G>A (p.Arg740Gln)	WDR59 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317821	NM_030581.4(WDR59):c.2218C>T (p.Arg740Trp)	WDR59 (R185W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352635	NM_030581.4(WDR59):c.2213G>A (p.Arg738Gln)	WDR59 (R738Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190127	NM_030581.4(WDR59):c.2207A>G (p.Tyr736Cys)	WDR59 (Y181C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190126	NM_030581.4(WDR59):c.2099C>T (p.Thr700Met)	WDR59 (T145M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464897	NM_030581.4(WDR59):c.2090C>T (p.Ser697Leu)	WDR59 (S142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646865	NM_030581.4(WDR59):c.2058C>T (p.Leu686=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481955	NM_030581.4(WDR59):c.1982C>T (p.Ser661Leu)	WDR59 (S106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190125	NM_030581.4(WDR59):c.1977C>G (p.His659Gln)	WDR59 (H104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319060	NM_030581.4(WDR59):c.1942A>G (p.Ile648Val)	WDR59 (I648V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331840	NM_030581.4(WDR59):c.1916G>A (p.Arg639Gln)	WDR59 (R639Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334666	NM_030581.4(WDR59):c.1892G>A (p.Arg631His)	WDR59 (R631H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512531	NM_030581.4(WDR59):c.1886G>A (p.Ser629Asn)	WDR59 (S629N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710400	NM_030581.4(WDR59):c.1867-7dup	WDR59	Duplication (intron variant)	not provided	GBenign
Select item 2352166	NM_030581.4(WDR59):c.1769G>A (p.Arg590His)	WDR59 (R35H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190124	NM_030581.4(WDR59):c.1753G>A (p.Ala585Thr)	WDR59 (A585T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570339	NM_030581.4(WDR59):c.1690T>C (p.Ser564Pro)	WDR59 (S564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225939	NM_030581.4(WDR59):c.1685C>T (p.Ala562Val)	WDR59 (A562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323520	NM_030581.4(WDR59):c.1682G>A (p.Arg561Gln)	WDR59 (R561Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190123	NM_030581.4(WDR59):c.1681C>T (p.Arg561Trp)	WDR59 (R561W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786294	NM_030581.4(WDR59):c.1674A>G (p.Thr558=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768792	NM_030581.4(WDR59):c.1570A>G (p.Thr524Ala)	WDR59 (T524A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2474425	NM_030581.4(WDR59):c.1549C>T (p.Pro517Ser)	WDR59 (P517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326230	NM_030581.4(WDR59):c.1492G>A (p.Glu498Lys)	WDR59 (E498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267088	NM_030581.4(WDR59):c.1471C>T (p.Leu491Phe)	WDR59 (L491F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559982	NM_030581.4(WDR59):c.1327C>A (p.Pro443Thr)	WDR59 (P443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454806	NM_030581.4(WDR59):c.1271A>G (p.Asn424Ser)	WDR59 (N424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646866	NM_030581.4(WDR59):c.1116C>T (p.Pro372=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784659	NM_030581.4(WDR59):c.1102C>G (p.Leu368Val)	WDR59 (L368V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2552551	NM_030581.4(WDR59):c.1065T>A (p.Asp355Glu)	WDR59 (D355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379910	NM_030581.4(WDR59):c.995T>C (p.Val332Ala)	WDR59 (V332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340610	NM_030581.4(WDR59):c.976A>C (p.Asn326His)	WDR59 (N326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317999	NM_030581.4(WDR59):c.959T>C (p.Met320Thr)	WDR59 (M320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263543	NM_030581.4(WDR59):c.929C>G (p.Thr310Ser)	WDR59 (T310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540105	NM_030581.4(WDR59):c.911C>T (p.Thr304Met)	WDR59 (T304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212703	NM_030581.4(WDR59):c.826C>G (p.His276Asp)	WDR59 (H276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785540	NM_030581.4(WDR59):c.820C>G (p.Pro274Ala)	WDR59 (P274A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2286128	NM_030581.4(WDR59):c.677A>G (p.Lys226Arg)	WDR59 (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234176	NM_030581.4(WDR59):c.674G>C (p.Arg225Pro)	WDR59 (R225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190134	NM_030581.4(WDR59):c.657G>T (p.Trp219Cys)	WDR59 (W219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475702	NM_030581.4(WDR59):c.644C>T (p.Ser215Phe)	WDR59 (S215F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529486	NM_030581.4(WDR59):c.515T>G (p.Val172Gly)	WDR59 (V172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190133	NM_030581.4(WDR59):c.490C>G (p.Leu164Val)	WDR59 (L164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375120	NM_030581.4(WDR59):c.442G>A (p.Val148Ile)	WDR59 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365587	NM_030581.4(WDR59):c.428T>A (p.Val143Asp)	WDR59 (V143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646867	NM_030581.4(WDR59):c.384C>T (p.Thr128=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326480	NM_030581.4(WDR59):c.286G>A (p.Glu96Lys)	WDR59 (E96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275605	NM_030581.4(WDR59):c.145G>A (p.Glu49Lys)	WDR59 (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190135	NM_030581.4(WDR59):c.71T>C (p.Val24Ala)	WDR59 (V24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787724	NM_030581.4(WDR59):c.63G>A (p.Ala21=)	WDR59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382305	NM_030581.4(WDR59):c.62C>T (p.Ala21Val)	WDR59 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541958	NM_030581.4(WDR59):c.56C>T (p.Ala19Val)	WDR59 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684816	GRCh37/hg19 16q23.1(chr16:74741456-75085898)x3	FA2H, WDR59 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 979475	GRCh37/hg19 16q23.1(chr16:74726998-74997287)x1	MLKL, WDR59 +1 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815833	GRCh37/hg19 16q23.1(chr16:74999819-75248871)x4	ZFP1, CTRB2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 685328	GRCh37/hg19 16q23.1(chr16:74466959-74966742)x3	FA2H, GLG1 +3 more	Copy number gain	not provided	GUncertain significance

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