ClinVar for Gene (Select 4289) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294997	NM_013255.5(MKLN1):c.281A>G (p.Asn94Ser)	MKLN1 (N71S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205888	NM_013255.5(MKLN1):c.912T>A (p.Ser304Arg)	MKLN1 (S304R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205568	NM_013255.5(MKLN1):c.859T>A (p.Leu287Met)	MKLN1 (L264M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204642	NM_013255.5(MKLN1):c.638A>G (p.His213Arg)	MKLN1 (H190R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203804	NM_013255.5(MKLN1):c.26C>T (p.Ala9Val)	MKLN1 (A9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202906	NM_013255.5(MKLN1):c.2018A>G (p.Glu673Gly)	MKLN1 (E466G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202619	NM_013255.5(MKLN1):c.1888T>G (p.Tyr630Asp)	MKLN1 (Y630D +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 2531905	NM_013255.5(MKLN1):c.1607A>T (p.Asp536Val)	MKLN1 (D513V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472078	NM_013255.5(MKLN1):c.485A>G (p.Gln162Arg)	MKLN1 (Q139R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2390077	NM_013255.5(MKLN1):c.748C>G (p.Arg250Gly)	MKLN1 (R250G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365602	NM_013255.5(MKLN1):c.17C>T (p.Ala6Val)	MKLN1 (A6V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2331995	NM_013255.5(MKLN1):c.32C>T (p.Pro11Leu)	MKLN1 (P11L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308804	NM_013255.5(MKLN1):c.2065G>A (p.Gly689Ser)	MKLN1 (G482S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271913	NM_013255.5(MKLN1):c.1534A>T (p.Thr512Ser)	MKLN1 (T305S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251999	NM_013255.5(MKLN1):c.1096A>C (p.Ile366Leu)	MKLN1 (I343L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246931	NM_013255.5(MKLN1):c.2126A>G (p.Gln709Arg)	MKLN1 (Q502R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242076	NM_013255.5(MKLN1):c.1480C>T (p.His494Tyr)	MKLN1 (H287Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237420	NM_013255.5(MKLN1):c.1108A>G (p.Thr370Ala)	MKLN1 (T163A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235151	NM_013255.5(MKLN1):c.1328A>T (p.Glu443Val)	MKLN1 (E236V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226927	NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val)	MKLN1 (I159V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219912	NM_013255.5(MKLN1):c.770A>G (p.Lys257Arg)	MKLN1 (K50R +2 more)	Single nucleotide variant (missense variant)	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 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 815035	GRCh37/hg19 7q32.3-33(chr7:130604326-133333388)x3	PLXNA4, CHCHD3 +3 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 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
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 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 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 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 148314	GRCh38/hg38 7q32.3(chr7:131228764-131452396)x1	LOC129389862, LOC129999371 +3 more	Copy number loss	See cases	GUncertain significance
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 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: 54