LOC112486223[gene] - 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 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 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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 148353	GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 153450	GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1	CDK10, CHMP1A +38 more	Copy number loss	See cases	GUncertain significance
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 652972	NC_000016.10:g.(?_89738591)_(89816625_?)del	FANCA, LOC112486223 +11 more	Deletion	Fanconi anemia	GPathogenic
Select item 646402	NC_000016.10:g.(?_89752128)_(89816625_?)del	FANCA, LOC112486223 +3 more	Deletion	Fanconi anemia	GPathogenic
Select item 526504	NC_000016.10:g.(?_89761943)_(89920218_?)del	LOC130059839, LOC130059840 +18 more	Deletion	Fanconi anemia	GPathogenic
Select item 526505	NC_000016.10:g.(?_89767135)_(89816621_?)del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 623135	NM_000135.2(FANCA):c.1_2151+1del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia complementation group A	GLikely pathogenic
Select item 645864	NC_000016.10:g.(?_89791402)_(89816615_?)del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 58272	GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	FANCA, LOC112486223 +30 more	Copy number loss	See cases	GUncertain significance
Select item 974077	NC_000016.10:g.89807755_89816658del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974075	NM_000135.2(FANCA):c.(?_-42)_523-663del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974074	NM_000135.2(FANCA):c.(?_-42)_523-818del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974073	NM_000135.2(FANCA):c.(?_-42)_523-828del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 526501	NC_000016.10:g.(?_89810701)_(89816621_?)del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 216036	NM_000135.2(FANCA):c.(?_-1)_522+?del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 584062	NC_000016.10:g.(?_89814514)_(89816621_?)del	FANCA, LOC112486223 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 417424	NC_000016.9:g.(?_89880928)_(89883065_?)dup	FANCA, LOC112486223 +1 more	Duplication	Fanconi anemia	GUncertain significance
Select item 148474	GRCh38/hg38 16q24.3(chr16:89814556-89818183)x4	FANCA, LOC112486223 +2 more	Copy number gain	See cases	GUncertain significance
Select item 148473	GRCh38/hg38 16q24.3(chr16:89814556-89818183)x3	FANCA, LOC112486223 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2647141	NM_000135.4(FANCA):c.79+58C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819073	NM_000135.4(FANCA):c.79+21_79+43del	FANCA, LOC112486223	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2827763	NM_000135.4(FANCA):c.79+20C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2183365	NM_000135.4(FANCA):c.79+19C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1674332	NM_000135.4(FANCA):c.79+18G>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1621751	NM_000135.4(FANCA):c.79+17G>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2753756	NM_000135.4(FANCA):c.79+16A>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2995644	NM_000135.4(FANCA):c.79+15C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2147458	NM_000135.4(FANCA):c.79+15C>G	LOC112486223, FANCA	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2893667	NM_000135.4(FANCA):c.79+14G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2847106	NM_000135.4(FANCA):c.79+13G>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1040126	NM_000135.4(FANCA):c.79+10C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1544088	NM_000135.4(FANCA):c.79+9G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 751801	NM_000135.4(FANCA):c.79+8G>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2729377	NM_000135.4(FANCA):c.79+6T>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 1761140	NM_000135.4(FANCA):c.79+5G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1017098	NM_000135.4(FANCA):c.79+4G>A	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 847170	NM_000135.4(FANCA):c.79+4G>C	FANCA, LOC112486223	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 849517	NM_000135.4(FANCA):c.79+1G>A	FANCA, LOC112486223	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 556849	NM_000135.4(FANCA):c.79+1G>C	FANCA, LOC112486223	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 1467407	NM_000135.4(FANCA):c.78G>A (p.Leu26=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1561095	NM_000135.4(FANCA):c.76C>T (p.Leu26=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 990021	NM_000135.4(FANCA):c.76C>G (p.Leu26Val)	FANCA, LOC112486223 (L26V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 321374	NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)	FANCA, LOC112486223 (L25R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 2486927	NM_000135.4(FANCA):c.73C>A (p.Leu25Met)	FANCA, LOC112486223 (L25M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2037905	NM_000135.4(FANCA):c.72G>A (p.Glu24=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 961201	NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)	FANCA, LOC112486223 (E24*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 1148831	NM_000135.4(FANCA):c.69C>T (p.Ala23=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 974276	NM_000135.4(FANCA):c.44_69del (p.Pro15fs)	FANCA, LOC112486223 (P15fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 712541	NM_000135.4(FANCA):c.69C>G (p.Ala23=)	LOC112486223, FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2057072	NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)	FANCA, LOC112486223 (A23D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1027038	NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	FANCA, LOC112486223 (A23V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 856825	NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)	LOC112486223, FANCA (A23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 974278	NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 1375372	NM_000135.4(FANCA):c.65G>C (p.Trp22Ser)	FANCA, LOC112486223 (W22S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 550541	NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 2727173	NM_000135.4(FANCA):c.63C>G (p.Ala21=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1620998	NM_000135.4(FANCA):c.63C>T (p.Ala21=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1990143	NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)	FANCA, LOC112486223 (R20S)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 700290	NM_000135.4(FANCA):c.60G>A (p.Arg20=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 321375	NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)	FANCA, LOC112486223 (R20K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1937961	NM_000135.4(FANCA):c.57G>A (p.Arg19=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1114657	NM_000135.4(FANCA):c.57G>C (p.Arg19=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1003089	NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)	FANCA, LOC112486223 (R19W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1110142	NM_000135.4(FANCA):c.54C>T (p.Arg18=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1910833	NM_000135.4(FANCA):c.53G>A (p.Arg18His)	FANCA, LOC112486223 (R18H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2436163	NM_000135.4(FANCA):c.50dup (p.Arg18fs)	FANCA, LOC112486223 (R18fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 2725849	NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)	FANCA, LOC112486223 (G17D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2681909	NM_000135.4(FANCA):c.50G>T (p.Gly17Val)	FANCA, LOC112486223 (G17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426053	NM_000135.4(FANCA):c.50G>C (p.Gly17Ala)	FANCA, LOC112486223 (G17A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 974277	NM_000135.4(FANCA):c.50del (p.Gly17fs)	FANCA, LOC112486223 (G17fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 2183318	NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)	FANCA, LOC112486223 (G17C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1117482	NM_000135.4(FANCA):c.48G>A (p.Gly16=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 967432	NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)	FANCA, LOC112486223 (G16E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2157987	NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)	FANCA, LOC112486223 (G16R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 408172	NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)	FANCA, LOC112486223 (G16R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2769537	NM_000135.4(FANCA):c.45A>G (p.Pro15=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2982070	NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)	FANCA, LOC112486223 (P15L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3019223	NM_000135.4(FANCA):c.42C>T (p.Asp14=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1438401	NM_000135.4(FANCA):c.42C>G (p.Asp14Glu)	FANCA, LOC112486223 (D14E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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