20092[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 2263292	NM_018179.5(ATF7IP):c.103G>A (p.Glu35Lys)	ATF7IP (E43K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485074	NM_018179.5(ATF7IP):c.132A>C (p.Leu44Phe)	ATF7IP (L44F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320577	NM_018179.5(ATF7IP):c.227A>G (p.Glu76Gly)	ATF7IP (E84G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256772	NM_018179.5(ATF7IP):c.241C>T (p.Pro81Ser)	ATF7IP (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367394	NM_018179.5(ATF7IP):c.344A>G (p.His115Arg)	ATF7IP (H115R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527983	NM_018179.5(ATF7IP):c.356C>G (p.Pro119Arg)	ATF7IP (P119R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295083	NM_018179.5(ATF7IP):c.385C>G (p.Pro129Ala)	ATF7IP (P137A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737684	NM_018179.5(ATF7IP):c.416T>G (p.Leu139Arg)	ATF7IP (L147R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 781696	NM_018179.5(ATF7IP):c.439G>A (p.Gly147Arg)	ATF7IP (G155R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773021	NM_018179.5(ATF7IP):c.445C>T (p.Leu149=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2550213	NM_018179.5(ATF7IP):c.464C>T (p.Thr155Ile)	ATF7IP (T155I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320568	NM_018179.5(ATF7IP):c.523A>G (p.Thr175Ala)	ATF7IP (T175A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3025287	NM_018179.5(ATF7IP):c.538_567del (p.Pro180_Ala189del)	ATF7IP	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2209152	NM_018179.5(ATF7IP):c.563A>T (p.Asp188Val)	ATF7IP (D188V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283271	NM_018179.5(ATF7IP):c.569C>T (p.Thr190Ile)	ATF7IP (T190I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320584	NM_018179.5(ATF7IP):c.590A>G (p.Asp197Gly)	ATF7IP (D197G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3320595	NM_018179.5(ATF7IP):c.622G>A (p.Asp208Asn)	ATF7IP (D216N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262541	NM_018179.5(ATF7IP):c.687A>G (p.Ile229Met)	ATF7IP (I229M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130836	NM_018179.5(ATF7IP):c.745C>A (p.Pro249Thr)	ATF7IP (P249T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320561	NM_018179.5(ATF7IP):c.859C>T (p.Arg287Cys)	ATF7IP (R287C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371281	NM_018179.5(ATF7IP):c.898G>C (p.Val300Leu)	ATF7IP (V300L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320461	NM_018179.5(ATF7IP):c.913A>G (p.Asn305Asp)	ATF7IP (N305D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130837	NM_018179.5(ATF7IP):c.923C>G (p.Pro308Arg)	ATF7IP (P316R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286968	NM_018179.5(ATF7IP):c.948T>A (p.Phe316Leu)	ATF7IP (F324L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788880	NM_018179.5(ATF7IP):c.1002A>T (p.Ser334=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2233775	NM_018179.5(ATF7IP):c.1027A>G (p.Asn343Asp)	ATF7IP (N351D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130818	NM_018179.5(ATF7IP):c.1039G>T (p.Ala347Ser)	ATF7IP (A347S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320617	NM_018179.5(ATF7IP):c.1070C>A (p.Thr357Lys)	ATF7IP (T357K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221605	NM_018179.5(ATF7IP):c.1088G>A (p.Arg363Gln)	ATF7IP (R371Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320636	NM_018179.5(ATF7IP):c.1122T>A (p.Asp374Glu)	ATF7IP (D374E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400205	NM_018179.5(ATF7IP):c.1136T>C (p.Leu379Pro)	ATF7IP (L379P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130820	NM_018179.5(ATF7IP):c.1169T>C (p.Met390Thr)	ATF7IP (M398T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224062	NM_018179.5(ATF7IP):c.1193A>G (p.Asn398Ser)	ATF7IP (N398S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130821	NM_018179.5(ATF7IP):c.1199A>T (p.Asp400Val)	ATF7IP (D400V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130822	NM_018179.5(ATF7IP):c.1216C>A (p.Leu406Ile)	ATF7IP (L414I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130823	NM_018179.5(ATF7IP):c.1226C>T (p.Thr409Met)	ATF7IP (T409M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642754	NM_018179.5(ATF7IP):c.1371C>T (p.Leu457=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130824	NM_018179.5(ATF7IP):c.1381G>A (p.Asp461Asn)	ATF7IP (D469N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130825	NM_018179.5(ATF7IP):c.1405G>C (p.Glu469Gln)	ATF7IP (E477Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789215	NM_018179.5(ATF7IP):c.1505C>T (p.Ser502Leu)	ATF7IP (S502L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2474250	NM_018179.5(ATF7IP):c.1528G>A (p.Val510Ile)	ATF7IP (V518I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397049	NM_018179.5(ATF7IP):c.1535C>T (p.Ser512Leu)	ATF7IP (S520L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130826	NM_018179.5(ATF7IP):c.1543G>A (p.Glu515Lys)	ATF7IP (E515K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749401	NM_018179.5(ATF7IP):c.1586A>G (p.Asn529Ser)	ATF7IP (N528S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1271269	NM_018179.5(ATF7IP):c.1589A>G (p.Lys530Arg)	ATF7IP (K529R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3130827	NM_018179.5(ATF7IP):c.1605G>C (p.Glu535Asp)	ATF7IP (E542D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520835	NM_018179.5(ATF7IP):c.1609G>A (p.Val537Ile)	ATF7IP (V545I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472663	NM_018179.5(ATF7IP):c.1661G>A (p.Arg554Gln)	ATF7IP (R553Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130828	NM_018179.5(ATF7IP):c.1709G>A (p.Arg570His)	ATF7IP (R569H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713552	NM_018179.5(ATF7IP):c.1719G>C (p.Met573Ile)	ATF7IP (M572I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2604830	NM_018179.5(ATF7IP):c.1735G>A (p.Ala579Thr)	ATF7IP (A578T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611483	NM_018179.5(ATF7IP):c.1775A>G (p.Asn592Ser)	ATF7IP (N591S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320551	NM_018179.5(ATF7IP):c.1954C>T (p.Arg652Cys)	ATF7IP (R651C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231867	NM_018179.5(ATF7IP):c.1988G>C (p.Arg663Thr)	ATF7IP (R663T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781066	NM_018179.5(ATF7IP):c.2201G>A (p.Ser734Asn)	ATF7IP (S733N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2589988	NM_018179.5(ATF7IP):c.2296C>A (p.Gln766Lys)	ATF7IP (Q773K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262427	NM_018179.5(ATF7IP):c.2303C>T (p.Pro768Leu)	ATF7IP (P767L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496302	NM_018179.5(ATF7IP):c.2347G>A (p.Val783Met)	ATF7IP (V783M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723030	NM_018179.5(ATF7IP):c.2361A>G (p.Val787=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788881	NM_018179.5(ATF7IP):c.2509T>C (p.Ser837Pro)	ATF7IP (S845P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2568493	NM_018179.5(ATF7IP):c.2545T>C (p.Ser849Pro)	ATF7IP (S856P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130829	NM_018179.5(ATF7IP):c.2551C>A (p.Pro851Thr)	ATF7IP (P858T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130830	NM_018179.5(ATF7IP):c.2560A>G (p.Ser854Gly)	ATF7IP (S861G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273123	NM_018179.5(ATF7IP):c.2562T>G (p.Ser854Arg)	ATF7IP (S862R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316805	NM_018179.5(ATF7IP):c.2570G>A (p.Arg857Lys)	ATF7IP (R856K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454532	NM_018179.5(ATF7IP):c.2578A>G (p.Thr860Ala)	ATF7IP (T867A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568445	NM_018179.5(ATF7IP):c.2579C>T (p.Thr860Ile)	ATF7IP (T867I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130831	NM_018179.5(ATF7IP):c.2584A>G (p.Ser862Gly)	ATF7IP (S869G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130832	NM_018179.5(ATF7IP):c.2693A>G (p.Tyr898Cys)	ATF7IP (Y897C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130833	NM_018179.5(ATF7IP):c.2731A>G (p.Ile911Val)	ATF7IP (I918V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508595	NM_018179.5(ATF7IP):c.2749A>G (p.Ser917Gly)	ATF7IP (S917G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266162	NM_018179.5(ATF7IP):c.2761G>T (p.Ala921Ser)	ATF7IP (A921S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261221	NM_018179.5(ATF7IP):c.2834G>A (p.Ser945Asn)	ATF7IP (S952N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130834	NM_018179.5(ATF7IP):c.2870A>G (p.Lys957Arg)	ATF7IP (K964R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320631	NM_018179.5(ATF7IP):c.2939A>C (p.Gln980Pro)	ATF7IP (Q979P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320604	NM_018179.5(ATF7IP):c.3029C>T (p.Pro1010Leu)	ATF7IP (P1017L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746879	NM_018179.5(ATF7IP):c.3205G>A (p.Ala1069Thr)	ATF7IP (A1068T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3320610	NM_018179.5(ATF7IP):c.3446A>C (p.Gln1149Pro)	ATF7IP (Q1157P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293851	NM_018179.5(ATF7IP):c.3517A>C (p.Ser1173Arg)	ATF7IP (S1173R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376387	NM_018179.5(ATF7IP):c.3563G>A (p.Arg1188Gln)	ATF7IP (R1196Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130835	NM_018179.5(ATF7IP):c.3572C>T (p.Ala1191Val)	ATF7IP (A1190V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320627	NM_018179.5(ATF7IP):c.3604C>T (p.His1202Tyr)	ATF7IP (H1210Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic

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