27709[HGNC] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 402505	NM_001141947.3(CCDC66):c.11+7_11+16dup	CCDC66	Duplication (splice donor variant +1 more)	not specified	GBenign
Select item 3139276	NM_001141947.3(CCDC66):c.13G>T (p.Asp5Tyr)	CCDC66 (D5Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139287	NM_001141947.3(CCDC66):c.44A>T (p.Asp15Val)	CCDC66 (D15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2217729	NM_001141947.3(CCDC66):c.74A>G (p.Tyr25Cys)	CCDC66 (Y25C +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3139294	NM_001141947.3(CCDC66):c.79C>T (p.His27Tyr)	CCDC66 (H27Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2471133	NM_001141947.3(CCDC66):c.110A>G (p.Asn37Ser)	CCDC66 (N3S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367339	NM_001141947.3(CCDC66):c.157A>T (p.Ile53Phe)	CCDC66 (I20F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264264	NM_001141947.3(CCDC66):c.173A>G (p.Gln58Arg)	CCDC66 (Q24R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210171	NM_001141947.3(CCDC66):c.182G>A (p.Cys61Tyr)	CCDC66 (C28Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274596	NM_001141947.3(CCDC66):c.196A>G (p.Lys66Glu)	CCDC66 (K33E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287593	NM_001141947.3(CCDC66):c.257G>T (p.Gly86Val)	CCDC66 (G53V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531621	NM_001141947.3(CCDC66):c.265T>C (p.Phe89Leu)	CCDC66 (F55L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284771	NM_001141947.3(CCDC66):c.272C>A (p.Ser91Tyr)	CCDC66 (S57Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208700	NM_001141947.3(CCDC66):c.274A>C (p.Thr92Pro)	CCDC66 (T58P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609428	NM_001141947.3(CCDC66):c.308A>G (p.Asp103Gly)	CCDC66 (D103G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356533	NM_001141947.3(CCDC66):c.341C>T (p.Ala114Val)	CCDC66 (A114V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139283	NM_001141947.3(CCDC66):c.380C>T (p.Thr127Ile)	CCDC66 (T93I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139284	NM_001141947.3(CCDC66):c.402G>C (p.Lys134Asn)	CCDC66 (K100N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139285	NM_001141947.3(CCDC66):c.409A>G (p.Lys137Glu)	CCDC66 (K104E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139286	NM_001141947.3(CCDC66):c.425C>G (p.Ala142Gly)	CCDC66 (A108G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604901	NM_001141947.3(CCDC66):c.440G>A (p.Ser147Asn)	CCDC66 (S147N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139288	NM_001141947.3(CCDC66):c.566A>G (p.Asn189Ser)	CCDC66 (N156S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362285	NM_001141947.3(CCDC66):c.579T>G (p.Asn193Lys)	CCDC66 (N160K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264259	NM_001141947.3(CCDC66):c.598A>G (p.Ile200Val)	CCDC66 (I200V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139290	NM_001141947.3(CCDC66):c.632C>T (p.Ser211Leu)	CCDC66 (S177L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139291	NM_001141947.3(CCDC66):c.652A>G (p.Lys218Glu)	CCDC66 (K184E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139292	NM_001141947.3(CCDC66):c.658G>C (p.Val220Leu)	CCDC66 (V187L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247331	NM_001141947.3(CCDC66):c.716A>G (p.Asn239Ser)	CCDC66 (N206S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653907	NM_001141947.3(CCDC66):c.747T>C (p.Thr249=)	CCDC66	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3139293	NM_001141947.3(CCDC66):c.761A>C (p.Glu254Ala)	CCDC66 (E247A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394477	NM_001141947.3(CCDC66):c.872C>T (p.Pro291Leu)	CCDC66 (P257L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366834	NM_001141947.3(CCDC66):c.901A>G (p.Ile301Val)	CCDC66 (I267V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3139295	NM_001141947.3(CCDC66):c.931T>C (p.Ser311Pro)	CCDC66 (S311P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2688727	NM_001141947.3(CCDC66):c.1037_1040del (p.Arg346fs)	CCDC66 (R312fs +4 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2532529	NM_001141947.3(CCDC66):c.1058T>C (p.Ile353Thr)	CCDC66 (I319T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264262	NM_001141947.3(CCDC66):c.1180G>A (p.Val394Ile)	CCDC66 (V30I +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264266	NM_001141947.3(CCDC66):c.1197G>C (p.Gln399His)	CCDC66 (Q376H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480054	NM_001141947.3(CCDC66):c.1289A>G (p.Asp430Gly)	CCDC66 (D396G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139272	NM_001141947.3(CCDC66):c.1327C>T (p.Arg443Cys)	CCDC66 (R420C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139273	NM_001141947.3(CCDC66):c.1328G>A (p.Arg443His)	CCDC66 (R409H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139274	NM_001141947.3(CCDC66):c.1351C>G (p.Pro451Ala)	CCDC66 (P417A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139275	NM_001141947.3(CCDC66):c.1388A>G (p.Lys463Arg)	CCDC66 (K164R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139277	NM_001141947.3(CCDC66):c.1411A>G (p.Ile471Val)	CCDC66 (I129V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262741	NM_001141947.3(CCDC66):c.1619A>C (p.Gln540Pro)	CCDC66 (Q490P +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280568	NM_001141947.3(CCDC66):c.1630C>G (p.Gln544Glu)	CCDC66 (Q501E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264261	NM_001141947.3(CCDC66):c.1658G>A (p.Arg553Gln)	CCDC66 (R189Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263300	NM_001141947.3(CCDC66):c.1871A>G (p.Asn624Ser)	CCDC66 (N325S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548519	NM_001141947.3(CCDC66):c.1888G>C (p.Gly630Arg)	CCDC66 (G266R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218470	NM_001141947.3(CCDC66):c.1927C>T (p.Pro643Ser)	CCDC66 (P609S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139279	NM_001141947.3(CCDC66):c.1937C>T (p.Ser646Leu)	CCDC66 (S304L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264258	NM_001141947.3(CCDC66):c.1949T>C (p.Ile650Thr)	CCDC66 (I286T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477963	NM_001141947.3(CCDC66):c.1973A>G (p.Asn658Ser)	CCDC66 (N316S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591205	NM_001141947.3(CCDC66):c.2002G>C (p.Ala668Pro)	CCDC66 (A326P +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264260	NM_001141947.3(CCDC66):c.2024A>G (p.Asn675Ser)	CCDC66 (N632S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262498	NM_001141947.3(CCDC66):c.2026C>T (p.Arg676Trp)	CCDC66 (R626W +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139280	NM_001141947.3(CCDC66):c.2027G>A (p.Arg676Gln)	CCDC66 (R633Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375089	NM_001141947.3(CCDC66):c.2060T>G (p.Ile687Arg)	CCDC66 (I345R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369853	NM_001141947.3(CCDC66):c.2104G>C (p.Asp702His)	CCDC66 (D652H +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315815	NM_001141947.3(CCDC66):c.2121G>C (p.Lys707Asn)	CCDC66 (K664N +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264263	NM_001141947.3(CCDC66):c.2177A>G (p.Gln726Arg)	CCDC66 (Q384R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264265	NM_001141947.3(CCDC66):c.2198G>A (p.Arg733Lys)	CCDC66 (R683K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467456	NM_001141947.3(CCDC66):c.2303C>T (p.Thr768Met)	CCDC66 (T774M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472503	NM_001141947.3(CCDC66):c.2316G>C (p.Leu772Phe)	CCDC66 (L738F +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2259574	NM_001141947.3(CCDC66):c.2475G>T (p.Glu825Asp)	CCDC66 (E526D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278280	NM_001141947.3(CCDC66):c.2543C>T (p.Pro848Leu)	CCDC66 (P484L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493488	NM_001141947.3(CCDC66):c.2555C>T (p.Thr852Ile)	CCDC66 (T510I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264256	NM_001141947.3(CCDC66):c.2624A>C (p.Gln875Pro)	CCDC66 (Q511P +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264257	NM_001141947.3(CCDC66):c.2651G>T (p.Arg884Leu)	CCDC66 (R520L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139281	NM_001141947.3(CCDC66):c.2651G>C (p.Arg884Pro)	CCDC66 (R542P +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589300	NM_001141947.3(CCDC66):c.2659T>C (p.Phe887Leu)	CCDC66 (F853L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262547	NM_001141947.3(CCDC66):c.2689C>G (p.Leu897Val)	CCDC66 (L863V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471642	NM_001141947.3(CCDC66):c.2810C>T (p.Ala937Val)	CCDC66, TASOR (A903V +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139282	NM_001141947.3(CCDC66):c.2816A>C (p.Asn939Thr)	CCDC66, TASOR (N916T +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 774299	NM_001141947.3(CCDC66):c.2825_2828dup (p.Ser943fs)	CCDC66, TASOR (S579fs +11 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2366331	NM_001141947.3(CCDC66):c.2824G>A (p.Glu942Lys)	CCDC66, TASOR (E643K +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2685920	GRCh37/hg19 3p14.3(chr3:56317848-56658135)x3	CCDC66, ERC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 686187	GRCh37/hg19 3p14.3(chr3:56310834-56652900)x3	CCDC66, ERC2	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 84