CTCFL[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 2681220	NM_001269043.2(CTCFL):c.2064A>T (p.Gln688His)	CTCFL (Q688H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3078572	NM_001386993.1(CTCFL):c.1979C>T (p.Thr660Met)	CTCFL (T610M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540172	NM_001386993.1(CTCFL):c.1977C>G (p.Asn659Lys)	CTCFL (N608K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605000	NM_001386993.1(CTCFL):c.1957A>G (p.Thr653Ala)	CTCFL (T602A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775652	NM_001386993.1(CTCFL):c.1954G>A (p.Val652Met)	CTCFL (V652M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3078571	NM_001386993.1(CTCFL):c.1939G>A (p.Glu647Lys)	CTCFL (E596K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270029	NM_001386993.1(CTCFL):c.1929A>C (p.Arg643Ser)	CTCFL (R592S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349819	NM_001386993.1(CTCFL):c.1924G>A (p.Ala642Thr)	CTCFL (A591T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270031	NM_001386993.1(CTCFL):c.1884C>A (p.Phe628Leu)	CTCFL (F578L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607756	NM_001386993.1(CTCFL):c.1857G>C (p.Glu619Asp)	CTCFL (E568D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321377	NM_001386993.1(CTCFL):c.1856A>T (p.Glu619Val)	CTCFL (E569V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652424	NM_001386993.1(CTCFL):c.1833C>T (p.Asn611=)	CTCFL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2530940	NM_001386993.1(CTCFL):c.1796A>G (p.Gln599Arg)	CTCFL (Q337R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470433	NM_001386993.1(CTCFL):c.1750A>G (p.Thr584Ala)	CTCFL (T584A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457939	NM_001386993.1(CTCFL):c.1688G>A (p.Arg563Lys)	CTCFL (R513K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404652	NM_001386993.1(CTCFL):c.1571G>A (p.Arg524Gln)	CTCFL (R474Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652425	NM_001386993.1(CTCFL):c.1563A>G (p.Lys521=)	CTCFL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3078570	NM_001386993.1(CTCFL):c.1552T>C (p.Ser518Pro)	CTCFL (S256P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270027	NM_001386993.1(CTCFL):c.1516C>T (p.Arg506Cys)	CTCFL (R506C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078569	NM_001386993.1(CTCFL):c.1481C>T (p.Ala494Val)	CTCFL (A232V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078567	NM_001386993.1(CTCFL):c.1292C>T (p.Pro431Leu)	CTCFL (P431L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270028	NM_001386993.1(CTCFL):c.1276C>G (p.Pro426Ala)	CTCFL (P221A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531085	NM_001386993.1(CTCFL):c.1267G>A (p.Glu423Lys)	CTCFL (E161K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078566	NM_001386993.1(CTCFL):c.1264G>A (p.Gly422Ser)	CTCFL (G160S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2215814	NM_001386993.1(CTCFL):c.1205T>C (p.Ile402Thr)	CTCFL (I197T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499993	NM_001386993.1(CTCFL):c.1159C>T (p.Arg387Cys)	CTCFL (R125C +2 more)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 2548757	NM_001386993.1(CTCFL):c.1102C>A (p.Arg368Ser)	CTCFL (R163S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251625	NM_001386993.1(CTCFL):c.961G>A (p.Ala321Thr)	CTCFL (A321T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492668	NM_001386993.1(CTCFL):c.835C>T (p.His279Tyr)	CTCFL (H17Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558433	NM_001386993.1(CTCFL):c.776G>A (p.Cys259Tyr)	CTCFL (C54Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270030	NM_001386993.1(CTCFL):c.775T>A (p.Cys259Ser)	CTCFL (C259S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078581	NM_001386993.1(CTCFL):c.746A>G (p.Lys249Arg)	CTCFL (K44R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652426	NM_001386993.1(CTCFL):c.714T>C (p.Ala238=)	CTCFL	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2250797	NM_001386993.1(CTCFL):c.634A>T (p.Ser212Cys)	CTCFL (S7C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078580	NM_001386993.1(CTCFL):c.632G>T (p.Arg211Ile)	CTCFL (R211I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270026	NM_001386993.1(CTCFL):c.587C>A (p.Thr196Lys)	CTCFL (T196K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2352883	NM_001386993.1(CTCFL):c.575T>C (p.Leu192Ser)	CTCFL (L192S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3078578	NM_001386993.1(CTCFL):c.560A>T (p.Glu187Val)	CTCFL (E187V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 781569	NM_001386993.1(CTCFL):c.516C>T (p.Ser172=)	CTCFL	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2569692	NM_001386993.1(CTCFL):c.500G>A (p.Ser167Asn)	CTCFL (S167N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078577	NM_001386993.1(CTCFL):c.463G>T (p.Ala155Ser)	CTCFL (A155S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535820	NM_001386993.1(CTCFL):c.463G>A (p.Ala155Thr)	CTCFL (A155T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270032	NM_001386993.1(CTCFL):c.428A>G (p.Tyr143Cys)	CTCFL (Y143C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078576	NM_001386993.1(CTCFL):c.410G>A (p.Ser137Asn)	CTCFL (S137N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078575	NM_001386993.1(CTCFL):c.406A>G (p.Ile136Val)	CTCFL (I136V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308067	NM_001386993.1(CTCFL):c.386G>T (p.Ser129Ile)	CTCFL (S129I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078574	NM_001386993.1(CTCFL):c.322G>A (p.Val108Met)	CTCFL (V108M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612011	NM_001386993.1(CTCFL):c.316G>C (p.Glu106Gln)	CTCFL (E106Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227742	NM_001386993.1(CTCFL):c.289A>G (p.Met97Val)	CTCFL (M97V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078573	NM_001386993.1(CTCFL):c.225C>G (p.Ser75Arg)	CTCFL (S75R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517021	NM_001386993.1(CTCFL):c.131C>A (p.Pro44His)	CTCFL (P44H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078568	NM_001386993.1(CTCFL):c.129C>G (p.Ser43Arg)	CTCFL (S43R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306238	NM_001386993.1(CTCFL):c.106T>C (p.Cys36Arg)	CTCFL (C36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391674	NM_001386993.1(CTCFL):c.89A>T (p.Glu30Val)	CTCFL (E30V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458783	NM_001386993.1(CTCFL):c.88G>A (p.Glu30Lys)	CTCFL (E30K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462060	NM_001386993.1(CTCFL):c.58G>A (p.Glu20Lys)	CTCFL (E20K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 73