CCNT1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2207885	NM_001240.4(CCNT1):c.2125C>T (p.Arg709Trp)	CCNT1 (R639W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493392	NM_001240.4(CCNT1):c.1994A>C (p.His665Pro)	CCNT1 (H600P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607890	NM_001240.4(CCNT1):c.1898G>A (p.Arg633His)	CCNT1 (R633H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343579	NM_001240.4(CCNT1):c.1889G>A (p.Cys630Tyr)	CCNT1 (C560Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140015	NM_001240.4(CCNT1):c.1847A>G (p.His616Arg)	CCNT1 (H331R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298604	NM_001240.4(CCNT1):c.1839G>T (p.Met613Ile)	CCNT1 (M548I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140014	NM_001240.4(CCNT1):c.1691C>T (p.Ser564Phe)	CCNT1 (S499F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410411	NM_001240.4(CCNT1):c.1655G>A (p.Ser552Asn)	CCNT1 (S487N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140013	NM_001240.4(CCNT1):c.1448G>T (p.Arg483Leu)	CCNT1 (R198L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373122	NM_001240.4(CCNT1):c.1447C>T (p.Arg483Cys)	CCNT1 (R413C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323657	NM_001240.4(CCNT1):c.1430C>T (p.Pro477Leu)	CCNT1 (P407L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343578	NM_001240.4(CCNT1):c.1409A>G (p.Asp470Gly)	CCNT1 (D185G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642928	NM_001240.4(CCNT1):c.1356G>A (p.Leu452=)	CCNT1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3140012	NM_001240.4(CCNT1):c.1316T>C (p.Met439Thr)	CCNT1 (M439T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140010	NM_001240.4(CCNT1):c.1307T>C (p.Ile436Thr)	CCNT1 (I151T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523835	NM_001240.4(CCNT1):c.1252T>C (p.Tyr418His)	CCNT1 (Y133H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401659	NM_001240.4(CCNT1):c.1181C>T (p.Ala394Val)	CCNT1 (A324V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317699	NM_001240.4(CCNT1):c.1180G>A (p.Ala394Thr)	CCNT1 (A329T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587999	NM_001240.4(CCNT1):c.1147C>G (p.Pro383Ala)	CCNT1 (P313A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140009	NM_001240.4(CCNT1):c.1084C>G (p.His362Asp)	CCNT1 (H292D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339752	NM_001240.4(CCNT1):c.1067C>A (p.Ala356Glu)	CCNT1 (A356E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305969	NM_001240.4(CCNT1):c.988C>G (p.Pro330Ala)	CCNT1 (P260A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543820	NM_001240.4(CCNT1):c.843G>C (p.Gln281His)	CCNT1 (Q211H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2609541	NM_001240.4(CCNT1):c.818G>A (p.Gly273Glu)	CCNT1 (G273E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2293689	NM_001240.4(CCNT1):c.800C>G (p.Thr267Arg)	CCNT1 (T267R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392319	NM_001240.4(CCNT1):c.212T>C (p.Met71Thr)	CCNT1 (M71T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337524	NM_001240.4(CCNT1):c.106T>C (p.Ser36Pro)	CCNT1, LOC130007793 (S36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 688471	GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3	KANSL2, LALBA +5 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394378	GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3	ADCY6, CACNB3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 39