CMTM7[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2280231	NM_138410.4(CMTM7):c.29C>T (p.Thr10Ile)	CMTM7 (T10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226067	NM_138410.4(CMTM7):c.55G>C (p.Gly19Arg)	CMTM7 (G19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602550	NM_138410.4(CMTM7):c.217G>A (p.Ala73Thr)	CMTM7 (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328885	NM_138410.4(CMTM7):c.242C>A (p.Thr81Asn)	CMTM7 (T81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507465	NM_138410.4(CMTM7):c.304G>C (p.Val102Leu)	CMTM7 (V102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279786	NM_138410.4(CMTM7):c.304G>A (p.Val102Met)	CMTM7 (V102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602268	NM_138410.4(CMTM7):c.349T>G (p.Leu117Val)	CMTM7 (L117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527005	GRCh37/hg19 3p23-22.3(chr3:31859973-33127072)	CCR4, CMTM6 +9 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 980515	GRCh37/hg19 3p22.3(chr3:32249166-32510263)x3	CMTM8, CMTM7	Copy number gain	not provided	GLikely benign
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
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 24