CCDC71L[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 2296967	NM_175884.6(CCDC71L):c.643C>A (p.Gln215Lys)	CCDC71L (Q215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552136	NM_175884.6(CCDC71L):c.560C>G (p.Thr187Arg)	CCDC71L, LOC129999115 (T187R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525865	NM_175884.6(CCDC71L):c.484C>G (p.Pro162Ala)	CCDC71L, LOC129999115 (P162A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 221313	NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg)	CCDC71L, LOC129999115 (S160R)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2307101	NM_175884.6(CCDC71L):c.451C>T (p.Pro151Ser)	CCDC71L, LOC129999115 (P151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457142	NM_175884.6(CCDC71L):c.424G>T (p.Ala142Ser)	CCDC71L, LOC129999115 (A142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557521	NM_175884.6(CCDC71L):c.416C>T (p.Ala139Val)	CCDC71L, LOC129999115 (A139V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596526	NM_175884.6(CCDC71L):c.409G>A (p.Ala137Thr)	CCDC71L, LOC129999115 (A137T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401630	NM_175884.6(CCDC71L):c.353G>A (p.Arg118His)	CCDC71L, LOC129999115 (R118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467565	NM_175884.6(CCDC71L):c.347C>T (p.Thr116Ile)	CCDC71L, LOC129999115 (T116I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346134	NM_175884.6(CCDC71L):c.340C>T (p.Pro114Ser)	CCDC71L, LOC129999115 (P114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284334	NM_175884.6(CCDC71L):c.330C>A (p.Asp110Glu)	CCDC71L, LOC129999115 (D110E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555774	NM_175884.6(CCDC71L):c.254A>G (p.Lys85Arg)	CCDC71L (K85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355873	NM_175884.6(CCDC71L):c.44C>G (p.Ala15Gly)	CCDC71L (A15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399928	NM_175884.6(CCDC71L):c.38C>T (p.Pro13Leu)	CCDC71L (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
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 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
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 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 35