ClinVar for Gene (Select 346389) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121849	NM_182762.4(MACC1):c.592A>G (p.Ile198Val)	MACC1 (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121847	NM_182762.4(MACC1):c.2506A>C (p.Asn836His)	MACC1 (N836H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121846	NM_182762.4(MACC1):c.2392C>T (p.His798Tyr)	MACC1 (H798Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121845	NM_182762.4(MACC1):c.2153T>C (p.Ile718Thr)	MACC1 (I718T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121844	NM_182762.4(MACC1):c.209A>G (p.Gln70Arg)	MACC1 (Q70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121843	NM_182762.4(MACC1):c.194A>C (p.Asn65Thr)	MACC1 (N65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121842	NM_182762.4(MACC1):c.1846G>T (p.Val616Leu)	MACC1 (V616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121841	NM_182762.4(MACC1):c.1818T>G (p.Ile606Met)	MACC1 (I606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121840	NM_182762.4(MACC1):c.1354A>T (p.Arg452Trp)	MACC1 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685237	GRCh37/hg19 7p21.1-15.3(chr7:18603745-21437047)x1	ABCB5, FERD3L +7 more	Copy number loss	not provided	GPathogenic
Select item 2613435	NM_182762.4(MACC1):c.445G>A (p.Asp149Asn)	MACC1 (D149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609184	NM_182762.4(MACC1):c.1634A>G (p.Asp545Gly)	MACC1 (D545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606943	NM_182762.4(MACC1):c.958T>C (p.Phe320Leu)	MACC1 (F320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605212	NM_182762.4(MACC1):c.281C>T (p.Ser94Phe)	MACC1 (S94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593147	NM_182762.4(MACC1):c.830T>C (p.Leu277Ser)	MACC1 (L277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589132	NM_182762.4(MACC1):c.455A>G (p.His152Arg)	MACC1 (H152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558014	NM_182762.4(MACC1):c.445G>C (p.Asp149His)	MACC1 (D149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528579	NM_182762.4(MACC1):c.313A>G (p.Arg105Gly)	MACC1 (R105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515878	NM_182762.4(MACC1):c.1388G>A (p.Gly463Asp)	MACC1 (G463D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514843	NM_182762.4(MACC1):c.1004T>A (p.Val335Asp)	MACC1 (V335D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479438	NM_182762.4(MACC1):c.76A>G (p.Met26Val)	MACC1 (M26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454221	NM_182762.4(MACC1):c.89A>G (p.Lys30Arg)	MACC1 (K30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410472	NM_182762.4(MACC1):c.1736C>T (p.Ala579Val)	MACC1 (A579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409633	NM_182762.4(MACC1):c.568C>T (p.Arg190Cys)	MACC1 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390868	NM_182762.4(MACC1):c.760T>C (p.Phe254Leu)	MACC1 (F254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372293	NM_182762.4(MACC1):c.2537T>A (p.Phe846Tyr)	MACC1 (F846Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368379	NM_182762.4(MACC1):c.1793A>G (p.Tyr598Cys)	MACC1 (Y598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367748	NM_182762.4(MACC1):c.1397T>A (p.Val466Asp)	LOC129998023, MACC1 (V466D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366320	NM_182762.4(MACC1):c.1744G>A (p.Gly582Arg)	MACC1 (G582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354662	NM_182762.4(MACC1):c.1581C>G (p.Ile527Met)	MACC1 (I527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349513	NM_182762.4(MACC1):c.204G>T (p.Trp68Cys)	MACC1 (W68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340847	NM_182762.4(MACC1):c.143A>T (p.Asn48Ile)	MACC1 (N48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340846	NM_182762.4(MACC1):c.132C>A (p.Asp44Glu)	MACC1 (D44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330589	NM_182762.4(MACC1):c.365T>C (p.Val122Ala)	MACC1 (V122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314695	NM_182762.4(MACC1):c.349G>A (p.Gly117Ser)	MACC1 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306503	NM_182762.4(MACC1):c.1361A>G (p.Glu454Gly)	MACC1 (E454G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296008	NM_182762.4(MACC1):c.1160T>G (p.Val387Gly)	MACC1 (V387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294802	NM_182762.4(MACC1):c.2062A>G (p.Lys688Glu)	MACC1 (K688E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294079	NM_182762.4(MACC1):c.572C>T (p.Ser191Phe)	MACC1 (S191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284824	NM_182762.4(MACC1):c.67T>G (p.Leu23Val)	MACC1 (L23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275477	NM_182762.4(MACC1):c.325A>G (p.Asn109Asp)	MACC1 (N109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271336	NM_182762.4(MACC1):c.1390G>A (p.Glu464Lys)	LOC129998023, MACC1 (E464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234309	NM_182762.4(MACC1):c.139C>G (p.His47Asp)	MACC1 (H47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232701	NM_182762.4(MACC1):c.2174A>C (p.Asp725Ala)	MACC1 (D725A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227887	NM_182762.4(MACC1):c.179C>T (p.Ala60Val)	MACC1 (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223110	NM_182762.4(MACC1):c.2318G>A (p.Arg773Gln)	MACC1 (R773Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220005	NM_182762.4(MACC1):c.1345G>A (p.Glu449Lys)	MACC1 (E449K)	Single nucleotide variant (missense variant)	not specified	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 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	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 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563408	GRCh37/hg19 7p21.1-15.3(chr7:19173971-21399377)x3	SP8, ITGB8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 149762	GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3	ABCB5, FERD3L +38 more	Copy number gain	See cases	GUncertain significance
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +248 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 147387	GRCh38/hg38 7p21.1(chr7:19178547-20733512)x3	ABCB5, GIRGL +29 more	Copy number gain	See cases	GUncertain significance
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 82