ClinVar for Gene (Select 57821) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264130	NM_001300969.2(CCDC181):c.1474C>T (p.His492Tyr)	BLZF1, CCDC181 (H491Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264129	NM_001300969.2(CCDC181):c.542A>G (p.Asn181Ser)	CCDC181 (N181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264128	NM_001300969.2(CCDC181):c.788C>G (p.Ser263Cys)	CCDC181 (S263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138974	NM_001300969.2(CCDC181):c.977T>C (p.Ile326Thr)	CCDC181 (I326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138973	NM_001300969.2(CCDC181):c.892C>T (p.Arg298Cys)	CCDC181 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138972	NM_001300969.2(CCDC181):c.818C>T (p.Thr273Ile)	CCDC181 (T273I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138971	NM_001300969.2(CCDC181):c.817A>G (p.Thr273Ala)	CCDC181 (T273A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138970	NM_001300969.2(CCDC181):c.545T>C (p.Met182Thr)	CCDC181 (M182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138969	NM_001300969.2(CCDC181):c.508A>G (p.Thr170Ala)	CCDC181 (T170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138968	NM_001300969.2(CCDC181):c.329A>G (p.Glu110Gly)	CCDC181 (E110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138967	NM_001300969.2(CCDC181):c.326T>C (p.Leu109Pro)	CCDC181 (L109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138966	NM_001300969.2(CCDC181):c.257T>C (p.Val86Ala)	CCDC181 (V86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138964	NM_001300969.2(CCDC181):c.1166A>G (p.Glu389Gly)	CCDC181 (E389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639534	NM_001300969.2(CCDC181):c.882A>G (p.Pro294=)	CCDC181	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611051	NM_001300969.2(CCDC181):c.1336A>G (p.Lys446Glu)	CCDC181 (K446E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544269	NM_001300969.2(CCDC181):c.1379G>T (p.Arg460Ile)	BLZF1, CCDC181 (R460I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537984	NM_001300969.2(CCDC181):c.796G>A (p.Gly266Ser)	CCDC181 (G266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513486	NM_001300969.2(CCDC181):c.1387C>T (p.Arg463Trp)	BLZF1, CCDC181 (R463W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464427	NM_001300969.2(CCDC181):c.449G>A (p.Arg150Gln)	CCDC181 (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463696	NM_001300969.2(CCDC181):c.860C>T (p.Pro287Leu)	CCDC181 (P287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457999	NM_001300969.2(CCDC181):c.109A>G (p.Ile37Val)	CCDC181 (I37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409739	NM_001300969.2(CCDC181):c.1181A>C (p.Gln394Pro)	CCDC181 (Q394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406981	NM_001300969.2(CCDC181):c.994A>G (p.Thr332Ala)	CCDC181 (T332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375026	NM_001300969.2(CCDC181):c.122C>T (p.Ala41Val)	CCDC181 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372431	NM_001300969.2(CCDC181):c.1457G>A (p.Arg486His)	BLZF1, CCDC181 (R485H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365036	NM_001300969.2(CCDC181):c.1287A>C (p.Glu429Asp)	CCDC181 (E428D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349020	NM_001300969.2(CCDC181):c.500A>G (p.Glu167Gly)	CCDC181 (E167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347452	NM_001300969.2(CCDC181):c.1311G>C (p.Lys437Asn)	CCDC181 (K436N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336962	NM_001300969.2(CCDC181):c.247A>G (p.Ile83Val)	CCDC181 (I83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335676	NM_001300969.2(CCDC181):c.758A>G (p.Gln253Arg)	CCDC181 (Q253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328750	NM_001300969.2(CCDC181):c.625T>C (p.Cys209Arg)	CCDC181 (C209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320897	NM_001300969.2(CCDC181):c.1316A>T (p.Glu439Val)	CCDC181 (E438V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320258	NM_001300969.2(CCDC181):c.1142A>C (p.Gln381Pro)	CCDC181 (Q381P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319400	NM_001300969.2(CCDC181):c.311T>G (p.Phe104Cys)	CCDC181 (F104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309271	NM_001300969.2(CCDC181):c.1247G>A (p.Arg416Gln)	CCDC181 (R415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302196	NM_001300969.2(CCDC181):c.428C>T (p.Pro143Leu)	CCDC181 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270141	NM_001300969.2(CCDC181):c.1184G>C (p.Arg395Pro)	CCDC181 (R395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206344	NM_001300969.2(CCDC181):c.994A>C (p.Thr332Pro)	CCDC181 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979304	GRCh37/hg19 1q24.2(chr1:169205727-169383182)x1	BLZF1, NME7 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814139	GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1	C1orf112, NME7 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 687738	GRCh37/hg19 1q24.2(chr1:169371524-169496812)x3	CCDC181, F5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	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
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
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 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 60