CDC20B[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2530240	NM_001170402.1(CDC20B):c.1556A>G (p.Tyr519Cys)	CDC20B (Y515C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315402	NM_001170402.1(CDC20B):c.1546T>G (p.Trp516Gly)	CDC20B (W474G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326722	NM_001170402.1(CDC20B):c.1439C>T (p.Ser480Phe)	CDC20B (S438F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519812	NM_001170402.1(CDC20B):c.1424C>T (p.Thr475Ile)	CDC20B (T433I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271886	NM_001170402.1(CDC20B):c.1404G>T (p.Lys468Asn)	CDC20B (K426N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381762	NM_001170402.1(CDC20B):c.1222G>T (p.Asp408Tyr)	CDC20B (D408Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356843	NM_001170402.1(CDC20B):c.1181C>T (p.Pro394Leu)	CDC20B (P394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264940	NM_001170402.1(CDC20B):c.1166G>A (p.Ser389Asn)	CDC20B (S389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526651	NM_001170402.1(CDC20B):c.1106T>C (p.Leu369Pro)	CDC20B (L369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140788	NM_001170402.1(CDC20B):c.1094C>T (p.Pro365Leu)	CDC20B (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140787	NM_001170402.1(CDC20B):c.1058G>A (p.Arg353His)	CDC20B (R353H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217763	NM_001170402.1(CDC20B):c.1054C>G (p.Leu352Val)	CDC20B (L352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225640	NM_001170402.1(CDC20B):c.1021G>A (p.Asp341Asn)	CDC20B (D341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615294	NM_001170402.1(CDC20B):c.972T>A (p.Asn324Lys)	CDC20B (N324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140794	NM_001170402.1(CDC20B):c.890T>A (p.Val297Glu)	CDC20B (V297E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403025	NM_001170402.1(CDC20B):c.883G>A (p.Gly295Arg)	CDC20B (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140792	NM_001170402.1(CDC20B):c.847A>G (p.Lys283Glu)	CDC20B (K283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368410	NM_001170402.1(CDC20B):c.700C>G (p.Leu234Val)	CDC20B (L234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334922	NM_001170402.1(CDC20B):c.655C>T (p.Pro219Ser)	CDC20B (P219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255688	NM_001170402.1(CDC20B):c.650T>C (p.Leu217Pro)	CDC20B (L217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140791	NM_001170402.1(CDC20B):c.643T>C (p.Ser215Pro)	CDC20B (S215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471534	NM_001170402.1(CDC20B):c.624T>G (p.Ser208Arg)	CDC20B (S208R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140790	NM_001170402.1(CDC20B):c.463G>C (p.Glu155Gln)	CDC20B (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390981	NM_001170402.1(CDC20B):c.433G>T (p.Ala145Ser)	CDC20B (A145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217571	NM_001170402.1(CDC20B):c.432G>C (p.Lys144Asn)	CDC20B (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264939	NM_001170402.1(CDC20B):c.358T>C (p.Ser120Pro)	CDC20B (S120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655462	NM_001170402.1(CDC20B):c.339A>G (p.Lys113=)	CDC20B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526851	NM_001170402.1(CDC20B):c.316G>A (p.Val106Met)	CDC20B (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228696	NM_001170402.1(CDC20B):c.310G>A (p.Gly104Arg)	CDC20B (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140789	NM_001170402.1(CDC20B):c.281A>G (p.Gln94Arg)	CDC20B (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264938	NM_001170402.1(CDC20B):c.191C>T (p.Ala64Val)	CDC20B (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339869	NM_001170402.1(CDC20B):c.148A>G (p.Thr50Ala)	CDC20B (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282569	NM_001008397.4(GPX8):c.92C>T (p.Thr31Met)	CDC20B, GPX8 (T31M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2252348	NM_001008397.4(GPX8):c.97T>C (p.Phe33Leu)	CDC20B, GPX8 (F33L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469048	NM_001008397.4(GPX8):c.167A>G (p.Lys56Arg)	CDC20B, GPX8 (K56R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281605	NM_001008397.4(GPX8):c.222C>G (p.Asn74Lys)	CDC20B, GPX8 (N23K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102124	NM_001008397.4(GPX8):c.269A>G (p.Lys90Arg)	CDC20B, GPX8 (K39R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785122	NM_001008397.4(GPX8):c.351C>T (p.Arg117=)	CDC20B, GPX8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2599146	NM_001008397.4(GPX8):c.365T>C (p.Val122Ala)	CDC20B, GPX8 (V122A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332710	NM_001008397.4(GPX8):c.371C>G (p.Ser124Cys)	CDC20B, GPX8 (S73C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235376	NM_001008397.4(GPX8):c.414C>G (p.His138Gln)	CDC20B, GPX8 (H87Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515438	NM_001008397.4(GPX8):c.505T>G (p.Tyr169Asp)	CDC20B, GPX8 (Y76D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282568	NM_001008397.4(GPX8):c.605T>G (p.Ile202Ser)	CDC20B, GPX8 (I109S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 57