23261[HGNC] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 3139361	NM_001008391.4(CCDC73):c.3212C>G (p.Thr1071Arg)	CCDC73, EIF3M (T1071R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264289	NM_001008391.4(CCDC73):c.3211A>G (p.Thr1071Ala)	CCDC73, EIF3M (T1071A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264285	NM_001008391.4(CCDC73):c.3180C>A (p.Asp1060Glu)	CCDC73, EIF3M (D1060E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540110	NM_001008391.4(CCDC73):c.3126C>G (p.Ser1042Arg)	CCDC73, EIF3M (S1042R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464141	NM_001008391.4(CCDC73):c.3056C>T (p.Thr1019Ile)	CCDC73, EIF3M (T1019I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307770	NM_001008391.4(CCDC73):c.3003T>G (p.Phe1001Leu)	CCDC73 (F1001L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264291	NM_001008391.4(CCDC73):c.2991G>A (p.Met997Ile)	CCDC73 (M997I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592384	NM_001008391.4(CCDC73):c.2982G>T (p.Lys994Asn)	CCDC73 (K994N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348396	NM_001008391.4(CCDC73):c.2959A>C (p.Lys987Gln)	CCDC73 (K987Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139360	NM_001008391.4(CCDC73):c.2937C>G (p.Asn979Lys)	CCDC73 (N979K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139359	NM_001008391.4(CCDC73):c.2906G>C (p.Ser969Thr)	CCDC73 (S969T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641706	NM_001008391.4(CCDC73):c.2876T>G (p.Val959Gly)	CCDC73 (V959G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3139358	NM_001008391.4(CCDC73):c.2874T>A (p.Asp958Glu)	CCDC73 (D958E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469095	NM_001008391.4(CCDC73):c.2813A>T (p.Asp938Val)	CCDC73 (D938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469094	NM_001008391.4(CCDC73):c.2812G>A (p.Asp938Asn)	CCDC73 (D938N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641707	NM_001008391.4(CCDC73):c.2786C>T (p.Ser929Phe)	CCDC73 (S929F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2216292	NM_001008391.4(CCDC73):c.2771C>T (p.Ser924Leu)	CCDC73 (S924L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641708	NM_001008391.4(CCDC73):c.2768G>T (p.Ser923Ile)	CCDC73 (S923I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2217254	NM_001008391.4(CCDC73):c.2762C>T (p.Ala921Val)	CCDC73 (A921V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226920	NM_001008391.4(CCDC73):c.2753G>A (p.Ser918Asn)	CCDC73 (S918N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139356	NM_001008391.4(CCDC73):c.2746A>G (p.Ile916Val)	CCDC73 (I916V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549378	NM_001008391.4(CCDC73):c.2708A>T (p.Asn903Ile)	CCDC73 (N903I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273405	NM_001008391.4(CCDC73):c.2682A>C (p.Lys894Asn)	CCDC73 (K894N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139355	NM_001008391.4(CCDC73):c.2653A>G (p.Thr885Ala)	CCDC73 (T885A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139354	NM_001008391.4(CCDC73):c.2644G>A (p.Gly882Arg)	CCDC73 (G882R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264286	NM_001008391.4(CCDC73):c.2620T>A (p.Ser874Thr)	CCDC73 (S874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279668	NM_001008391.4(CCDC73):c.2571G>T (p.Met857Ile)	CCDC73 (M857I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244959	NM_001008391.4(CCDC73):c.2564G>A (p.Gly855Glu)	CCDC73 (G855E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347324	NM_001008391.4(CCDC73):c.2530G>C (p.Glu844Gln)	CCDC73 (E844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343287	NM_001008391.4(CCDC73):c.2423A>G (p.Asn808Ser)	CCDC73 (N808S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518524	NM_001008391.4(CCDC73):c.2405C>G (p.Thr802Arg)	CCDC73 (T802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622288	NM_001008391.4(CCDC73):c.2365G>A (p.Ala789Thr)	CCDC73 (A789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139353	NM_001008391.4(CCDC73):c.2150C>T (p.Ala717Val)	CCDC73 (A717V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139352	NM_001008391.4(CCDC73):c.2098G>A (p.Val700Ile)	CCDC73 (V700I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407717	NM_001008391.4(CCDC73):c.1903A>G (p.Ile635Val)	CCDC73 (I635V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397519	NM_001008391.4(CCDC73):c.1876A>G (p.Lys626Glu)	CCDC73 (K626E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139351	NM_001008391.4(CCDC73):c.1841C>T (p.Ala614Val)	CCDC73 (A614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287157	NM_001008391.4(CCDC73):c.1818G>T (p.Leu606Phe)	CCDC73 (L606F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246473	NM_001008391.4(CCDC73):c.1715A>C (p.Asn572Thr)	CCDC73 (N572T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339797	NM_001008391.4(CCDC73):c.1559T>G (p.Ile520Arg)	CCDC73 (I520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596890	NM_001008391.4(CCDC73):c.1517C>T (p.Thr506Met)	CCDC73 (T506M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255492	NM_001008391.4(CCDC73):c.1421T>A (p.Val474Asp)	CCDC73 (V474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139350	NM_001008391.4(CCDC73):c.1412T>C (p.Ile471Thr)	CCDC73 (I471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361300	NM_001008391.4(CCDC73):c.1357G>C (p.Glu453Gln)	CCDC73 (E453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139349	NM_001008391.4(CCDC73):c.1351T>G (p.Phe451Val)	CCDC73 (F451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249654	NM_001008391.4(CCDC73):c.1324G>C (p.Glu442Gln)	CCDC73 (E442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278725	NM_001008391.4(CCDC73):c.1289A>G (p.Asn430Ser)	CCDC73 (N430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139348	NM_001008391.4(CCDC73):c.1246A>T (p.Ile416Phe)	CCDC73 (I416F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340450	NM_001008391.4(CCDC73):c.1246A>G (p.Ile416Val)	CCDC73 (I416V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238093	NM_001008391.4(CCDC73):c.1067G>T (p.Gly356Val)	CCDC73 (G356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264294	NM_001008391.4(CCDC73):c.952G>A (p.Asp318Asn)	CCDC73 (D318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509773	NM_001008391.4(CCDC73):c.874C>T (p.Arg292Trp)	CCDC73 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264288	NM_001008391.4(CCDC73):c.659C>A (p.Ala220Glu)	CCDC73 (A220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522105	NM_001008391.4(CCDC73):c.635G>A (p.Ser212Asn)	CCDC73 (S212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397885	NM_001008391.4(CCDC73):c.577A>G (p.Ile193Val)	CCDC73 (I193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604713	NM_001008391.4(CCDC73):c.515C>T (p.Thr172Ile)	CCDC73 (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377610	NM_001008391.4(CCDC73):c.491T>C (p.Ile164Thr)	CCDC73 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264292	NM_001008391.4(CCDC73):c.467A>G (p.Asp156Gly)	CCDC73 (D156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387141	NM_001008391.4(CCDC73):c.448C>T (p.His150Tyr)	CCDC73 (H150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278814	NM_001008391.4(CCDC73):c.389A>C (p.Gln130Pro)	CCDC73 (Q130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264293	NM_001008391.4(CCDC73):c.275A>C (p.Lys92Thr)	CCDC73 (K92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531168	NM_001008391.4(CCDC73):c.262G>A (p.Ala88Thr)	CCDC73 (A88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251244	NM_001008391.4(CCDC73):c.151T>C (p.Tyr51His)	CCDC73 (Y51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594610	NM_001008391.4(CCDC73):c.125G>A (p.Arg42His)	CCDC73 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264287	NM_001008391.4(CCDC73):c.124C>T (p.Arg42Cys)	CCDC73 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469839	NM_001008391.4(CCDC73):c.11A>C (p.Asn4Thr)	CCDC73 (N4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310600	NM_024081.6(PRRG4):c.16G>A (p.Val6Ile)	CCDC73, LOC130005485 +1 more (V6I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1711098	GRCh37/hg19 11p13(chr11:32579393-32681516)x1	CCDC73, EIF3M	Copy number loss	See cases	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815423	GRCh37/hg19 11p13(chr11:32726428-32839079)x1	CCDC73	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394752	GRCh37/hg19 11p13(chr11:32737546-32875486)x3	CCDC73, PRRG4	Copy number gain	See cases	GLikely benign
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 89