COMTD1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	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 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 2538920	NM_144589.4(COMTD1):c.683C>A (p.Ala228Glu)	COMTD1 (A228E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614052	NM_144589.4(COMTD1):c.670A>C (p.Lys224Gln)	COMTD1, LOC130004132 (K224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147945	NM_144589.4(COMTD1):c.614G>A (p.Gly205Glu)	COMTD1 (G205E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240312	NM_144589.4(COMTD1):c.565G>A (p.Glu189Lys)	COMTD1 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536942	NM_144589.4(COMTD1):c.556G>A (p.Ala186Thr)	COMTD1, LOC130004133 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147944	NM_144589.4(COMTD1):c.386G>T (p.Arg129Leu)	COMTD1, LOC130004134 (R129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147943	NM_144589.4(COMTD1):c.386G>C (p.Arg129Pro)	COMTD1, LOC130004134 (R129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475999	NM_144589.4(COMTD1):c.377C>T (p.Ala126Val)	COMTD1, LOC130004134 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374740	NM_144589.4(COMTD1):c.371T>A (p.Leu124Gln)	COMTD1, LOC130004134 (L124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147942	NM_144589.4(COMTD1):c.337A>G (p.Thr113Ala)	COMTD1, LOC130004134 (T113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375623	NM_144589.4(COMTD1):c.326T>C (p.Leu109Pro)	COMTD1, LOC130004134 (L109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147941	NM_144589.4(COMTD1):c.272C>G (p.Ala91Gly)	COMTD1, LOC130004134 (A91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147940	NM_144589.4(COMTD1):c.145C>T (p.Pro49Ser)	COMTD1 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545199	NM_144589.4(COMTD1):c.122G>C (p.Arg41Pro)	COMTD1 (R41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371821	NM_144589.4(COMTD1):c.121C>T (p.Arg41Trp)	COMTD1 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378085	NM_144589.4(COMTD1):c.28G>A (p.Val10Met)	COMTD1 (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315254	NM_144589.4(COMTD1):c.10C>A (p.Pro4Thr)	COMTD1, LOC124416844 (P4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063159	GRCh37/hg19 10q22.2(chr10:76780949-77088796)x3	COMTD1, DUSP13B +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063152	GRCh37/hg19 10q22.2(chr10:76733580-77200441)x3	COMTD1, DUSP13B +5 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 2425798	NC_000010.10:g.(?_76736352)_(77198536_?)dup	COMTD1, DUSP13B +5 more	Duplication	Genitopatellar syndrome	GLikely benign
Select item 2425796	NC_000010.10:g.(?_75671314)_(79799964_?)dup	AP3M1, ADK +16 more	Duplication	Genitopatellar syndrome	GUncertain significance
Select item 2425795	NC_000010.10:g.(?_76349020)_(78317046_?)del	ADK, COMTD1 +7 more	Deletion	Genitopatellar syndrome	GPathogenic
Select item 1809184	GRCh37/hg19 10q22.2(chr10:76763852-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	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 815360	GRCh37/hg19 10q22.2(chr10:76774010-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	GUncertain significance
Select item 689278	GRCh37/hg19 10q22.2(chr10:76961142-77035847)x1	COMTD1, VDAC2	Copy number loss	not provided	GUncertain significance
Select item 686559	GRCh37/hg19 10q22.2(chr10:76976280-77071856)x3	COMTD1, VDAC2	Copy number gain	not provided	GUncertain significance
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 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40