CMTM8[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 3146277	NM_178868.5(CMTM8):c.26C>T (p.Ser9Leu)	CMTM8 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554476	NM_178868.5(CMTM8):c.83G>A (p.Ser28Asn)	CMTM8 (S28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2223549	NM_178868.5(CMTM8):c.170C>T (p.Thr57Met)	CMTM8 (T57M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294394	NM_178868.5(CMTM8):c.197G>A (p.Arg66Gln)	CMTM8 (R66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268008	NM_178868.5(CMTM8):c.205G>T (p.Ala69Ser)	CMTM8 (A69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525153	NM_178868.5(CMTM8):c.232G>A (p.Val78Ile)	CMTM8 (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146278	NM_178868.5(CMTM8):c.287A>G (p.Tyr96Cys)	CMTM8 (Y96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206220	NM_178868.5(CMTM8):c.355T>A (p.Tyr119Asn)	CMTM8 (Y119N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541322	NM_178868.5(CMTM8):c.379G>T (p.Ala127Ser)	CMTM8 (A127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292403	NM_178868.5(CMTM8):c.388G>A (p.Val130Ile)	CMTM8 (V72I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234364	NM_178868.5(CMTM8):c.413A>G (p.Asn138Ser)	CMTM8 (N80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461633	NM_178868.5(CMTM8):c.469G>T (p.Ala157Ser)	CMTM8 (A99S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146280	NM_178868.5(CMTM8):c.516A>G (p.Ile172Met)	CMTM8 (I114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 980516	GRCh37/hg19 3p23-22.3(chr3:31988552-32303140)x3	OSBPL10, CMTM8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980515	GRCh37/hg19 3p22.3(chr3:32249166-32510263)x3	CMTM8, CMTM7	Copy number gain	not provided	GLikely benign
Select item 562764	GRCh37/hg19 3p23-22.3(chr3:31854742-32312549)x3	CMTM8, GPD1L +2 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	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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	TRIM71, TRNT1 +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: 33