18508[HGNC] - ClinVar

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Items: 88

	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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 3094233	NM_031281.3(FCRL5):c.*39C>G	FCRL5 (T988S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257757	NM_031281.3(FCRL5):c.*33T>C	FCRL5 (L986P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3094232	NM_031281.3(FCRL5):c.2888C>T (p.Pro963Leu)	FCRL5 (R960W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278405	NM_031281.3(FCRL5):c.2880G>A (p.Ala960=)	FCRL5 (R957H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3278404	NM_031281.3(FCRL5):c.2808T>C (p.His936=)	FCRL5 (M933T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094231	NM_031281.3(FCRL5):c.2808T>A (p.His936Gln)	FCRL5 (H936Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278401	NM_031281.3(FCRL5):c.2590G>A (p.Ala864Thr)	FCRL5, LOC126805880 (A864T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610398	NM_031281.3(FCRL5):c.2563G>A (p.Gly855Ser)	FCRL5, LOC126805880 (G855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094230	NM_031281.3(FCRL5):c.2557G>A (p.Ala853Thr)	FCRL5, LOC126805880 (A853T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2561030	NM_031281.3(FCRL5):c.2544T>G (p.Phe848Leu)	FCRL5, LOC126805880 (F848L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094229	NM_031281.3(FCRL5):c.2524G>T (p.Ala842Ser)	FCRL5, LOC126805880 (A842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458556	NM_031281.3(FCRL5):c.2518C>A (p.Leu840Met)	FCRL5, LOC126805880 (L840M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335698	NM_031281.3(FCRL5):c.2509A>G (p.Ile837Val)	FCRL5, LOC126805880 (I837V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554328	NM_031281.3(FCRL5):c.2465A>G (p.Asp822Gly)	FCRL5, LOC126805880 (D822G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094228	NM_031281.3(FCRL5):c.2431G>T (p.Ala811Ser)	FCRL5, LOC126805880 (A811S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218392	NM_031281.3(FCRL5):c.2291C>T (p.Ala764Val)	FCRL5, LOC126805880 (A764V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278403	NM_031281.3(FCRL5):c.2284C>T (p.His762Tyr)	FCRL5, LOC126805880 (H762Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282075	NM_031281.3(FCRL5):c.2267T>G (p.Leu756Arg)	FCRL5 (L756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784956	NM_031281.3(FCRL5):c.2256G>C (p.Pro752=)	FCRL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2329952	NM_031281.3(FCRL5):c.2215G>A (p.Glu739Lys)	FCRL5 (E739K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391909	NM_031281.3(FCRL5):c.2194G>T (p.Gly732Cys)	FCRL5 (G732C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094227	NM_031281.3(FCRL5):c.2177C>G (p.Ser726Cys)	FCRL5 (S726C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094226	NM_031281.3(FCRL5):c.2137T>G (p.Phe713Val)	FCRL5 (F713V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784957	NM_031281.3(FCRL5):c.2091T>C (p.Asp697=)	FCRL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709690	NM_031281.3(FCRL5):c.2065A>G (p.Ile689Val)	FCRL5 (I689V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2461136	NM_031281.3(FCRL5):c.2007G>T (p.Gln669His)	FCRL5 (Q669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724392	NM_031281.3(FCRL5):c.1905G>A (p.Glu635=)	FCRL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3094225	NM_031281.3(FCRL5):c.1898C>T (p.Ser633Leu)	FCRL5 (S633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615991	NM_031281.3(FCRL5):c.1864C>T (p.Leu622Phe)	FCRL5 (L622F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216586	NM_031281.3(FCRL5):c.1775G>T (p.Gly592Val)	FCRL5 (G592V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284531	NM_031281.3(FCRL5):c.1711A>G (p.Arg571Gly)	FCRL5 (R571G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094224	NM_031281.3(FCRL5):c.1687G>A (p.Val563Met)	FCRL5 (V563M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457176	NM_031281.3(FCRL5):c.1660G>A (p.Val554Met)	FCRL5 (V554M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253009	NM_031281.3(FCRL5):c.1625C>T (p.Thr542Ile)	FCRL5 (T542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770857	NM_031281.3(FCRL5):c.1619A>G (p.Tyr540Cys)	FCRL5 (Y540C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3094222	NM_031281.3(FCRL5):c.1574T>C (p.Val525Ala)	FCRL5 (V525A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551192	NM_031281.3(FCRL5):c.1561T>A (p.Ser521Thr)	FCRL5 (S521T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228231	NM_031281.3(FCRL5):c.1528G>A (p.Glu510Lys)	FCRL5 (E510K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278410	NM_031281.3(FCRL5):c.1519T>C (p.Phe507Leu)	FCRL5 (F507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372127	NM_031281.3(FCRL5):c.1496G>A (p.Gly499Asp)	FCRL5 (G499D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489578	NM_031281.3(FCRL5):c.1494A>T (p.Arg498Ser)	FCRL5 (R498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288747	NM_031281.3(FCRL5):c.1438G>C (p.Ala480Pro)	FCRL5 (A480P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337988	NM_031281.3(FCRL5):c.1408G>C (p.Val470Leu)	FCRL5 (V470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094220	NM_031281.3(FCRL5):c.1382C>T (p.Ala461Val)	FCRL5 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777330	NM_031281.3(FCRL5):c.1370A>G (p.Gln457Arg)	FCRL5 (Q457R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780266	NM_031281.3(FCRL5):c.1281C>A (p.Asn427Lys)	FCRL5 (N427K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592880	NM_031281.3(FCRL5):c.1268G>A (p.Arg423His)	FCRL5 (R423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408195	NM_031281.3(FCRL5):c.1267C>T (p.Arg423Cys)	FCRL5 (R423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094219	NM_031281.3(FCRL5):c.1252G>A (p.Gly418Ser)	FCRL5 (G418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251195	NM_031281.3(FCRL5):c.1213A>G (p.Arg405Gly)	FCRL5 (R405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331146	NM_031281.3(FCRL5):c.1153A>C (p.Ser385Arg)	FCRL5 (S385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264547	NM_031281.3(FCRL5):c.1139C>G (p.Pro380Arg)	FCRL5 (P380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406142	NM_031281.3(FCRL5):c.1129G>A (p.Val377Met)	FCRL5 (V377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278409	NM_031281.3(FCRL5):c.1078G>C (p.Gly360Arg)	FCRL5 (G360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520719	NM_031281.3(FCRL5):c.1004G>A (p.Cys335Tyr)	FCRL5 (C335Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458376	NM_031281.3(FCRL5):c.947G>A (p.Arg316His)	FCRL5 (R316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534952	NM_031281.3(FCRL5):c.750G>A (p.Met250Ile)	FCRL5 (M250I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278407	NM_031281.3(FCRL5):c.707G>A (p.Gly236Glu)	FCRL5 (G236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222212	NM_031281.3(FCRL5):c.680G>A (p.Arg227His)	FCRL5 (R227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094236	NM_031281.3(FCRL5):c.663T>A (p.Asp221Glu)	FCRL5 (D221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094235	NM_031281.3(FCRL5):c.620T>G (p.Val207Gly)	FCRL5 (V207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610399	NM_031281.3(FCRL5):c.575C>T (p.Pro192Leu)	FCRL5 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253464	NM_031281.3(FCRL5):c.572G>A (p.Arg191His)	FCRL5 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094234	NM_031281.3(FCRL5):c.542T>C (p.Val181Ala)	FCRL5 (V181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767712	NM_031281.3(FCRL5):c.495C>T (p.Arg165=)	FCRL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3278408	NM_031281.3(FCRL5):c.469T>C (p.Cys157Arg)	FCRL5 (C157R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323085	NM_031281.3(FCRL5):c.383A>G (p.Glu128Gly)	FCRL5 (E128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398130	NM_031281.3(FCRL5):c.380C>T (p.Ala127Val)	FCRL5 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292367	NM_031281.3(FCRL5):c.371G>A (p.Arg124Gln)	FCRL5 (R124Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251056	NM_031281.3(FCRL5):c.265G>A (p.Gly89Ser)	FCRL5 (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480329	NM_031281.3(FCRL5):c.256C>G (p.Gln86Glu)	FCRL5 (Q86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278406	NM_031281.3(FCRL5):c.251G>T (p.Arg84Ile)	FCRL5 (R84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352618	NM_031281.3(FCRL5):c.217A>G (p.Asn73Asp)	FCRL5 (N73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361910	NM_031281.3(FCRL5):c.212C>T (p.Pro71Leu)	FCRL5 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207712	NM_031281.3(FCRL5):c.204A>T (p.Arg68Ser)	FCRL5 (R68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094221	NM_031281.3(FCRL5):c.149A>C (p.Tyr50Ser)	FCRL5 (Y50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374909	NM_031281.3(FCRL5):c.80T>C (p.Leu27Pro)	FCRL5 (L27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565186	GRCh37/hg19 1q23.1(chr1:157347489-157804172)x3	FCRL1, FCRL5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 88