ClinVar for Gene (Select 4232) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294285	NM_002402.4(MEST):c.28A>G (p.Met10Val)	MEST (M10V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125396	NM_002402.4(MEST):c.82T>C (p.Tyr28His)	MEST (Y19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125395	NM_002402.4(MEST):c.32G>A (p.Arg11Lys)	MEST (R11K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125394	NM_002402.4(MEST):c.281T>G (p.Leu94Trp)	MEST (L80W +2 more)	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 2526176	NM_002402.4(MEST):c.767A>G (p.Asn256Ser)	MEST (N247S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489503	NM_002402.4(MEST):c.394C>T (p.Arg132Trp)	MEST (R123W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424285	NC_000007.13:g.(?_130020362)_(130667121_?)del	CEP41, COPG2 +8 more	Deletion	not provided	GUncertain significance
Select item 2396182	NM_002402.4(MEST):c.466C>A (p.Leu156Ile)	MEST (L147I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390261	NM_002402.4(MEST):c.874T>C (p.Phe292Leu)	MEST (F283L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386466	NM_002402.4(MEST):c.663T>G (p.Phe221Leu)	MEST (F212L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381771	NM_002402.4(MEST):c.557G>A (p.Arg186His)	MEST (R172H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368745	NM_002402.4(MEST):c.452T>C (p.Ile151Thr)	MEST (I151T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304554	NM_002402.4(MEST):c.908C>G (p.Ser303Cys)	LOC126860176, MEST (S260C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275659	NM_002402.4(MEST):c.412A>T (p.Asn138Tyr)	MEST (N129Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252360	NM_002402.4(MEST):c.658G>A (p.Val220Ile)	MEST (V206I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247586	NM_002402.4(MEST):c.166C>G (p.Arg56Gly)	MEST (R56G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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
Select item 208394	NM_002402.4(MEST):c.559C>T (p.Pro187Ser)	MEST (P178S +2 more)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146435	GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1	CEP41, CPA1 +12 more	Copy number loss	See cases	GUncertain significance
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 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

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Links from Gene

Items: 45