ECD[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
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 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	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 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 2237198	NM_007265.3(ECD):c.1791C>A (p.Asp597Glu)	ECD (D597E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550192	NM_007265.3(ECD):c.1787T>C (p.Val596Ala)	ECD (V629A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086888	NM_007265.3(ECD):c.1772T>G (p.Met591Arg)	ECD (M624R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739473	NM_007265.3(ECD):c.1705-9A>G	ECD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2401833	NM_007265.3(ECD):c.1511A>C (p.Asp504Ala)	ECD (D461A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617357	NM_007265.3(ECD):c.1438C>T (p.Pro480Ser)	ECD (P480S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265292	NM_007265.3(ECD):c.1383A>G (p.Ile461Met)	ECD (I494M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780140	NM_007265.3(ECD):c.1320C>T (p.Ser440=)	ECD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2229504	NM_007265.3(ECD):c.1306T>C (p.Ser436Pro)	ECD (S469P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3086887	NM_007265.3(ECD):c.1302A>C (p.Lys434Asn)	ECD (K434N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256749	NM_007265.3(ECD):c.1286A>T (p.Glu429Val)	ECD (E386V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713463	NM_007265.3(ECD):c.1212A>G (p.Ala404=)	ECD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2554439	NM_007265.3(ECD):c.1189A>G (p.Ile397Val)	ECD (I397V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213159	NM_007265.3(ECD):c.986C>T (p.Ala329Val)	ECD (A286V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254817	NM_007265.3(ECD):c.941A>C (p.Lys314Thr)	ECD (K314T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086890	NM_007265.3(ECD):c.893A>G (p.His298Arg)	ECD (H298R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463355	NM_007265.3(ECD):c.845G>A (p.Arg282Gln)	ECD (R282Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399961	NM_007265.3(ECD):c.841C>T (p.Arg281Trp)	ECD (R281W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2640581	NM_007265.3(ECD):c.780A>G (p.Thr260=)	ECD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544978	NM_007265.3(ECD):c.700G>T (p.Ala234Ser)	ECD (A234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086889	NM_007265.3(ECD):c.616C>T (p.Leu206Phe)	ECD (L206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533903	NM_007265.3(ECD):c.563G>T (p.Arg188Leu)	ECD (R188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303110	NM_007265.3(ECD):c.559A>G (p.Ile187Val)	ECD (I187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608269	NM_007265.3(ECD):c.541A>C (p.Ile181Leu)	ECD (I181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242711	NM_007265.3(ECD):c.448G>A (p.Ala150Thr)	ECD (A150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606231	NM_007265.3(ECD):c.364G>T (p.Ala122Ser)	ECD (A122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640582	NM_007265.3(ECD):c.231C>T (p.Gly77=)	ECD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2222434	NM_007265.3(ECD):c.116T>C (p.Ile39Thr)	ECD (I39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308743	NM_007265.3(ECD):c.107A>G (p.Gln36Arg)	ECD (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286100	NM_007265.3(ECD):c.69T>A (p.Asp23Glu)	ECD (D23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	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 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)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 47