"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ANAPC1"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025570	NM_022662.4(ANAPC1):c.3822G>C (p.Leu1274Phe)	ANAPC1 (L1274F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791467	NM_022662.4(ANAPC1):c.3162C>T (p.Tyr1054=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789704	NM_022662.4(ANAPC1):c.2742-7C>T	ANAPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2651266	NM_022662.4(ANAPC1):c.2736A>G (p.Glu912=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025299	NM_022662.4(ANAPC1):c.2566G>A (p.Gly856Arg)	ANAPC1 (G856R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778261	NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met)	ANAPC1 (T838M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 3026734	NM_022662.4(ANAPC1):c.2020C>T (p.Arg674Cys)	ANAPC1 (R674C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651267	NM_022662.4(ANAPC1):c.1902A>C (p.Ala634=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651268	NM_022662.4(ANAPC1):c.1225A>G (p.Ile409Val)	ANAPC1 (I409V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651269	NM_022662.4(ANAPC1):c.1143T>C (p.His381=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ANAPC1, ZC3H6 +8 more	Copy number loss	not provided	GUncertain significance