ZCCHC24[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2305669	NM_153367.4(ZCCHC24):c.633C>A (p.Asp211Glu)	ZCCHC24 (D211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540455	NM_153367.4(ZCCHC24):c.374G>A (p.Ser125Asn)	ZCCHC24 (S125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561528	NM_153367.4(ZCCHC24):c.344T>C (p.Leu115Pro)	ZCCHC24 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192542	NM_153367.4(ZCCHC24):c.298A>G (p.Asn100Asp)	ZCCHC24 (N100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538939	NM_153367.4(ZCCHC24):c.259A>G (p.Ser87Gly)	ZCCHC24 (S87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192541	NM_153367.4(ZCCHC24):c.254G>C (p.Ser85Thr)	ZCCHC24 (S85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539385	NM_153367.4(ZCCHC24):c.254G>A (p.Ser85Asn)	ZCCHC24 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192540	NM_153367.4(ZCCHC24):c.237G>C (p.Gln79His)	ZCCHC24 (Q79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192539	NM_153367.4(ZCCHC24):c.220A>G (p.Ser74Gly)	ZCCHC24 (S74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192543	NM_153367.4(ZCCHC24):c.89A>G (p.Asp30Gly)	ZCCHC24 (D30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1340854	GRCh37/hg19 10q22.3(chr10:81013486-81409192)x3	EIF5AL1, PPIF +4 more	Copy number gain	not provided	GUncertain significance
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 832057	NC_000010.10:g.(?_80961390)_(81319734_?)del	EIF5AL1, PPIF +3 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 24