ClinVar for Gene (Select 57639) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278704	NM_006682.3(FGL2):c.743G>C (p.Gly248Ala)	CCDC146, FGL2 (G248A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278703	NM_006682.3(FGL2):c.379G>T (p.Asp127Tyr)	CCDC146, FGL2 +1 more (D127Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263919	NM_020879.3(CCDC146):c.2561G>C (p.Arg854Thr)	CCDC146 (R854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263918	NM_020879.3(CCDC146):c.1874A>C (p.Gln625Pro)	CCDC146 (Q625P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263917	NM_020879.3(CCDC146):c.1040A>G (p.His347Arg)	CCDC146 (H347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263916	NM_020879.3(CCDC146):c.955A>G (p.Arg319Gly)	CCDC146 (R319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263915	NM_020879.3(CCDC146):c.1756A>G (p.Asn586Asp)	CCDC146 (N586D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263914	NM_020879.3(CCDC146):c.2059G>T (p.Ala687Ser)	CCDC146 (A687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263913	NM_020879.3(CCDC146):c.2518G>A (p.Glu840Lys)	CCDC146 (E840K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263912	NM_020879.3(CCDC146):c.844G>T (p.Ala282Ser)	CCDC146 (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263910	NM_020879.3(CCDC146):c.1724C>T (p.Ala575Val)	CCDC146 (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138480	NM_020879.3(CCDC146):c.934G>C (p.Val312Leu)	CCDC146 (V312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138479	NM_020879.3(CCDC146):c.847A>G (p.Ile283Val)	CCDC146 (I283V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138478	NM_020879.3(CCDC146):c.749G>T (p.Arg250Leu)	CCDC146 (R250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138477	NM_020879.3(CCDC146):c.734T>C (p.Ile245Thr)	CCDC146 (I245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138476	NM_020879.3(CCDC146):c.2362C>T (p.Leu788Phe)	CCDC146 (L788F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138474	NM_020879.3(CCDC146):c.2204A>G (p.Asp735Gly)	CCDC146 (D735G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138473	NM_020879.3(CCDC146):c.1888T>A (p.Tyr630Asn)	CCDC146 (Y630N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138472	NM_020879.3(CCDC146):c.1864G>A (p.Glu622Lys)	CCDC146 (E622K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138471	NM_020879.3(CCDC146):c.155A>T (p.Glu52Val)	CCDC146 (E52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094861	NM_006682.3(FGL2):c.652G>A (p.Ala218Thr)	CCDC146, FGL2 (A218T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3094859	NM_006682.3(FGL2):c.265G>A (p.Val89Ile)	CCDC146, FGL2 (V89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065177	NM_006682.3(FGL2):c.614_617del (p.Val205fs)	CCDC146, FGL2 (V205fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3024125	NM_020879.3(CCDC146):c.1084C>T (p.Arg362Ter)	CCDC146 (R362*)	Single nucleotide variant (nonsense)	Spermatogenic failure 94 +1 more	GPathogenic
Select item 2687891	NM_020879.3(CCDC146):c.2112del (p.Arg704fs)	CCDC146 (R704fs)	Deletion (frameshift variant)	Spermatogenic failure 94 +2 more	GPathogenic
Select item 2687890	NM_020879.3(CCDC146):c.1084C>G (p.Arg362Gly)	CCDC146 (R362G)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder due to single gene mutation	GPathogenic
Select item 2685250	GRCh37/hg19 7q11.23(chr7:76825702-76901941)x1	CCDC146, FGL2	Copy number loss	not provided	GUncertain significance
Select item 2657630	NM_020879.3(CCDC146):c.936C>T (p.Val312=)	CCDC146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621844	NM_020879.3(CCDC146):c.1766G>C (p.Arg589Pro)	CCDC146 (R589P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615016	NM_020879.3(CCDC146):c.1442A>C (p.Gln481Pro)	CCDC146 (Q481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614268	NM_020879.3(CCDC146):c.2750C>T (p.Ala917Val)	CCDC146 (A917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614267	NM_020879.3(CCDC146):c.1181C>A (p.Ala394Asp)	CCDC146 (A394D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588858	NM_020879.3(CCDC146):c.97A>G (p.Ile33Val)	CCDC146 (I33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560998	NM_020879.3(CCDC146):c.2726G>A (p.Arg909His)	CCDC146 (R909H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560198	NM_006682.3(FGL2):c.292G>C (p.Asp98His)	CCDC146, FGL2 +1 more (D98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555656	NM_020879.3(CCDC146):c.2299A>G (p.Lys767Glu)	CCDC146 (K767E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550597	NM_020879.3(CCDC146):c.1370A>C (p.Asn457Thr)	CCDC146 (N457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513261	NM_020879.3(CCDC146):c.599G>A (p.Arg200Gln)	CCDC146 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496411	NM_006682.3(FGL2):c.818C>G (p.Ala273Gly)	CCDC146, FGL2 (A273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495408	NM_020879.3(CCDC146):c.1713G>A (p.Met571Ile)	CCDC146 (M571I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486023	NM_020879.3(CCDC146):c.2552G>C (p.Cys851Ser)	CCDC146 (C851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481020	NM_020879.3(CCDC146):c.2458A>C (p.Met820Leu)	CCDC146 (M820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479459	NM_020879.3(CCDC146):c.1579A>G (p.Lys527Glu)	CCDC146 (K527E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404656	NM_020879.3(CCDC146):c.2504T>C (p.Ile835Thr)	CCDC146 (I835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396117	NM_020879.3(CCDC146):c.1852A>G (p.Met618Val)	CCDC146 (M618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389849	NM_020879.3(CCDC146):c.358G>A (p.Val120Ile)	CCDC146 (V120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388397	NM_020879.3(CCDC146):c.799A>G (p.Lys267Glu)	CCDC146 (K267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376089	NM_006682.3(FGL2):c.610C>G (p.Pro204Ala)	CCDC146, FGL2 (P204A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364842	NM_020879.3(CCDC146):c.2248G>A (p.Glu750Lys)	CCDC146 (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360394	NM_020879.3(CCDC146):c.1789G>A (p.Glu597Lys)	CCDC146 (E597K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358276	NM_020879.3(CCDC146):c.2569A>G (p.Lys857Glu)	CCDC146 (K857E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343687	NM_020879.3(CCDC146):c.2573G>A (p.Gly858Asp)	CCDC146 (G858D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340864	NM_020879.3(CCDC146):c.1765C>T (p.Arg589Cys)	CCDC146 (R589C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331320	NM_020879.3(CCDC146):c.1844C>G (p.Thr615Arg)	CCDC146 (T615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329012	NM_020879.3(CCDC146):c.1430T>C (p.Leu477Pro)	CCDC146 (L477P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320662	NM_020879.3(CCDC146):c.697C>A (p.His233Asn)	CCDC146 (H233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317833	NM_006682.3(FGL2):c.595C>G (p.Gln199Glu)	CCDC146, FGL2 (Q199E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314661	NM_006682.3(FGL2):c.1090G>T (p.Asp364Tyr)	CCDC146, FGL2 (D364Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309127	NM_020879.3(CCDC146):c.2006A>G (p.Glu669Gly)	CCDC146 (E669G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307921	NM_020879.3(CCDC146):c.676G>A (p.Val226Ile)	CCDC146 (V226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301274	NM_020879.3(CCDC146):c.1457T>G (p.Ile486Ser)	CCDC146 (I486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297905	NM_020879.3(CCDC146):c.1076G>A (p.Arg359Gln)	CCDC146 (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279365	NM_020879.3(CCDC146):c.2701G>A (p.Gly901Ser)	CCDC146 (G901S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278490	NM_020879.3(CCDC146):c.638A>G (p.Glu213Gly)	CCDC146 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277191	NM_020879.3(CCDC146):c.1279T>C (p.Ser427Pro)	CCDC146 (S427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274253	NM_020879.3(CCDC146):c.2633T>G (p.Met878Arg)	CCDC146 (M878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270759	NM_020879.3(CCDC146):c.557G>A (p.Arg186His)	CCDC146 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259864	NM_020879.3(CCDC146):c.1982A>G (p.Gln661Arg)	CCDC146 (Q661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244867	NM_006682.3(FGL2):c.517G>T (p.Val173Phe)	CCDC146, FGL2 (V173F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234657	NM_020879.3(CCDC146):c.511A>T (p.Met171Leu)	CCDC146 (M171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214972	NM_020879.3(CCDC146):c.472A>G (p.Ile158Val)	CCDC146 (I158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213403	NM_020879.3(CCDC146):c.886G>A (p.Gly296Ser)	CCDC146 (G296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212098	NM_020879.3(CCDC146):c.2062G>A (p.Glu688Lys)	CCDC146 (E688K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1341187	GRCh37/hg19 7q11.23(chr7:76896700-77169384)x3	CCDC146, GSAP +1 more	Copy number gain	not provided	GUncertain significance
Select item 980830	GRCh37/hg19 7q11.23(chr7:76696035-76849523)x1	CCDC146, FGL2	Copy number loss	not provided	GLikely benign
Select item 814995	GRCh37/hg19 7q11.23(chr7:76784372-77199666)x3	FGL2, PTPN12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394845	GRCh37/hg19 7q11.23(chr7:76882556-76982281)x3	CCDC146, GSAP	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 94