CMC1[gene] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 150437	GRCh38/hg38 3p24.1(chr3:28103194-29104771)x3	AZI2, CMC1 +11 more	Copy number gain	See cases	GLikely benign
Select item 3146210	NM_182523.2(CMC1):c.32G>C (p.Arg11Thr)	CMC1 (R14T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246529	NM_182523.2(CMC1):c.67A>G (p.Met23Val)	CMC1 (M67V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294618	NM_182523.2(CMC1):c.125G>A (p.Cys42Tyr)	CMC1 (C12Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617977	NM_182523.2(CMC1):c.128A>G (p.Lys43Arg)	CMC1 (K13R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487213	NM_182523.2(CMC1):c.254G>T (p.Arg85Met)	CMC1 (R117M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390074	NM_182523.2(CMC1):c.258A>C (p.Glu86Asp)	CMC1 (E118D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146209	NM_182523.2(CMC1):c.296T>C (p.Leu99Pro)	CMC1 (L102P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132503	NM_022461.5(AZI2):c.1171A>G (p.Lys391Glu)	AZI2, CMC1 (K391E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371532	NM_022461.5(AZI2):c.1018G>A (p.Gly340Ser)	AZI2, CMC1 (G340S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132507	NM_022461.5(AZI2):c.925G>T (p.Val309Phe)	AZI2, CMC1 (V309F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2390019	NM_022461.5(AZI2):c.800G>T (p.Gly267Val)	AZI2, CMC1 (G267V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2272470	NM_022461.5(AZI2):c.779T>C (p.Val260Ala)	AZI2, CMC1 (V260A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685909	GRCh37/hg19 3p24.1(chr3:27922746-29158022)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685076	GRCh37/hg19 3p24.1(chr3:28319406-28452165)x1	AZI2, CMC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527003	GRCh37/hg19 3p24.1(chr3:27922745-29160209)	AZI2, CMC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 1340459	GRCh37/hg19 3p24.1(chr3:28021987-28927589)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980517	GRCh37/hg19 3p24.1(chr3:28255118-28311631)x1	CMC1	Copy number loss	not provided	GUncertain significance
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 688075	GRCh37/hg19 3p24.1(chr3:28076848-28660659)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	FANCD2OS, FBLN2 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	ANKRD28, ARL8B +145 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: 34