CCNL1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 3139971	NM_020307.4(CCNL1):c.1562A>G (p.His521Arg)	CCNL1 (H521R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264581	NM_020307.4(CCNL1):c.1556C>T (p.Ser519Leu)	CCNL1 (S519L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264580	NM_020307.4(CCNL1):c.1490A>G (p.Asp497Gly)	CCNL1 (D497G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327666	NM_020307.4(CCNL1):c.1438G>T (p.Asp480Tyr)	CCNL1 (D480Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466906	NM_020307.4(CCNL1):c.1436G>A (p.Arg479Gln)	CCNL1 (R479Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558653	NM_020307.4(CCNL1):c.1378T>A (p.Ser460Thr)	CCNL1 (S460T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280476	NM_020307.4(CCNL1):c.1377T>G (p.Ser459Arg)	CCNL1 (S459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139969	NM_020307.4(CCNL1):c.1247G>A (p.Arg416Gln)	CCNL1 (R416Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264586	NM_020307.4(CCNL1):c.1186A>G (p.Arg396Gly)	CCNL1 (R396G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456397	NM_020307.4(CCNL1):c.1174G>C (p.Ala392Pro)	CCNL1 (A392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264585	NM_020307.4(CCNL1):c.1162A>C (p.Asn388His)	CCNL1 (N388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139968	NM_020307.4(CCNL1):c.1042G>A (p.Ala348Thr)	CCNL1 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139973	NM_020307.4(CCNL1):c.832A>G (p.Ile278Val)	CCNL1 (I278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139972	NM_020307.4(CCNL1):c.787A>G (p.Thr263Ala)	CCNL1 (T263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300881	NM_020307.4(CCNL1):c.742G>T (p.Ala248Ser)	CCNL1 (A248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549380	NM_020307.4(CCNL1):c.491C>T (p.Thr164Ile)	CCNL1 (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496073	NM_020307.4(CCNL1):c.436A>G (p.Ile146Val)	CCNL1 (I146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264582	NM_020307.4(CCNL1):c.211C>G (p.Gln71Glu)	CCNL1 (Q71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264583	NM_020307.4(CCNL1):c.196C>A (p.Pro66Thr)	CCNL1 (P66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264579	NM_020307.4(CCNL1):c.188G>C (p.Arg63Thr)	CCNL1 (R63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249607	NM_020307.4(CCNL1):c.112G>A (p.Gly38Arg)	CCNL1 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279161	NM_020307.4(CCNL1):c.94A>G (p.Thr32Ala)	CCNL1 (T32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264584	NM_020307.4(CCNL1):c.37G>T (p.Ala13Ser)	CCNL1 (A13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205800	NM_020307.4(CCNL1):c.37G>A (p.Ala13Thr)	CCNL1 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	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 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 42