2237[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 2364310	NM_012133.6(COPG2):c.619G>A (p.Asp207Asn)	COPG2 (D207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238430	NM_012133.6(COPG2):c.568A>G (p.Ile190Val)	COPG2 (I190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264909	NM_012133.6(COPG2):c.566A>G (p.Asn189Ser)	COPG2 (N189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366714	NM_012133.6(COPG2):c.536A>G (p.Asn179Ser)	COPG2 (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544275	NM_012133.6(COPG2):c.478C>G (p.Leu160Val)	COPG2 (L160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268965	NM_012133.6(COPG2):c.390G>T (p.Arg130Ser)	COPG2 (R130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567575	NM_012133.6(COPG2):c.386G>A (p.Cys129Tyr)	COPG2 (C129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617103	NM_012133.6(COPG2):c.373A>G (p.Ile125Val)	COPG2 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407362	NM_012133.6(COPG2):c.373A>C (p.Ile125Leu)	COPG2 (I125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151567	GRCh38/hg38 7q32.2-32.3(chr7:130652821-131101662)x3	LOC129999353, LOC129999354 +40 more	Copy number gain	See cases	GUncertain significance
Select item 3076262	NM_012133.6(COPG2):c.261G>A (p.Met87Ile)	COPG2 (M87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268964	NM_012133.6(COPG2):c.119A>C (p.Asn40Thr)	COPG2 (N40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2424285	NC_000007.13:g.(?_130020362)_(130667121_?)del	CEP41, COPG2 +8 more	Deletion	not provided	GUncertain significance
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527399	GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722)	COPG2, KLF14 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 more	Copy number gain	not provided	GUncertain significance
Select item 815034	GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3	MIR29A, MIR335 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687821	GRCh37/hg19 7q32.2-32.3(chr7:130032531-130590540)x3	CEP41, COPG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 41