ClinVar for Gene (Select 486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3053963	NM_001680.5(FXYD2):c.*6G>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	FXYD2-related disorder	GLikely benign
Select item 3032041	NM_001680.5(FXYD2):c.*6+1G>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (splice donor variant)	FXYD2-related disorder	GLikely benign
Select item 3000085	NM_001680.5(FXYD2):c.187G>A (p.Glu63Lys)	FXYD2, FXYD6-FXYD2 (E61K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991650	NM_001680.5(FXYD2):c.166A>G (p.Lys56Glu)	FXYD2, FXYD6-FXYD2 (K56E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984922	NM_001680.5(FXYD2):c.65-1G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2974773	NM_001680.5(FXYD2):c.177-6C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974035	NM_001680.5(FXYD2):c.57C>T (p.Phe19=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955576	NM_001680.5(FXYD2):c.64+19G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2865103	NM_021603.4(FXYD2):c.20-1939GTG[4]	FXYD2, FXYD6-FXYD2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2785977	NM_001680.5(FXYD2):c.62A>G (p.Tyr21Cys)	FXYD2, FXYD6-FXYD2 (Y19C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2691353	NM_001680.5(FXYD2):c.185A>G (p.Asn62Ser)	FXYD2, FXYD6-FXYD2 (N140S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	IL10RA, PAFAH1B2 +17 more	Deletion	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2414831	NM_001680.5(FXYD2):c.53C>T (p.Pro18Leu)	FXYD2, FXYD6-FXYD2 (P16L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2197713	NM_001680.5(FXYD2):c.173G>A (p.Arg58His)	FXYD2, FXYD6-FXYD2 (R56H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186659	NM_001680.5(FXYD2):c.177-6C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176285	NM_001680.5(FXYD2):c.54G>A (p.Pro18=)	FXYD2, FXYD6-FXYD2 (V101I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170273	NM_001680.5(FXYD2):c.192T>C (p.Asp64=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168629	NM_001680.5(FXYD2):c.63T>C (p.Tyr21=)	FXYD2, FXYD6-FXYD2 (W104R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2161768	NM_001680.5(FXYD2):c.176+3G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 2 +1 more	GUncertain significance
Select item 2144804	NM_001680.5(FXYD2):c.151C>T (p.Arg51Cys)	FXYD2, FXYD6-FXYD2 (P108L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084967	NM_001680.5(FXYD2):c.26-9C>T	FXYD6-FXYD2, FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046540	NM_001680.5(FXYD2):c.75C>T (p.Thr25=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2017842	NM_001680.5(FXYD2):c.168G>A (p.Lys56=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989737	NM_001680.5(FXYD2):c.64+14C>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978740	NM_001680.5(FXYD2):c.176+5G>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961134	NM_001680.5(FXYD2):c.140-11_140-7del	FXYD2, FXYD6-FXYD2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1956126	NM_001680.5(FXYD2):c.139+9G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923840	NM_001680.5(FXYD2):c.68_69del (p.Asp22_Tyr23insTer)	FXYD2, FXYD6-FXYD2	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 1900752	NM_001680.5(FXYD2):c.139+15C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897825	NM_001680.5(FXYD2):c.26-11C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897018	NM_001680.5(FXYD2):c.26-20C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706802	NM_021603.4(FXYD2):c.19+60C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1696692	NM_001680.5(FXYD2):c.25G>T (p.Gly9Cys)	FXYD2, FXYD6-FXYD2 (G9C)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 2	GUncertain significance
Select item 1653356	NM_001680.5(FXYD2):c.132C>T (p.Ile44=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1598876	NM_001680.5(FXYD2):c.26-5C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1489687	NM_001680.5(FXYD2):c.176G>A (p.Arg59Lys)	FXYD2, FXYD6-FXYD2 (R59K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	GRIK4, H2AX +73 more	Duplication	not provided	GUncertain significance
Select item 1360349	NM_001680.5(FXYD2):c.176+6C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1318333	NM_001680.5(FXYD2):c.65-63C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317538	NM_021603.4(FXYD2):c.19+80A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317355	NM_001680.5(FXYD2):c.*6+118G>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316554	NM_001680.5(FXYD2):c.26-150G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278795	NM_021603.4(FXYD2):c.20-2233A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272741	NM_001680.5(FXYD2):c.139+85T>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272007	NM_001680.5(FXYD2):c.*7-61G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251788	NM_001680.5(FXYD2):c.65-60A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249364	NM_001680.5(FXYD2):c.139+279A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248580	NM_001680.5(FXYD2):c.*6+29G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243897	NM_001680.5(FXYD2):c.*7-58G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236914	NM_001680.5(FXYD2):c.140-164A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234065	NM_021603.4(FXYD2):c.19+227T>C	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229852	NM_021603.4(FXYD2):c.-34C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1223822	NM_001680.5(FXYD2):c.25+29G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 880461	NM_001680.5(FXYD2):c.36C>G (p.Pro12=)	FXYD2, FXYD6-FXYD2 (Q95E)	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2	GUncertain significance
Select item 879279	NM_001680.5(FXYD2):c.90C>T (p.Gly30=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 878676	NM_001680.5(FXYD2):c.*149A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 806741	NM_001680.5(FXYD2):c.65-4G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 789041	NM_001680.5(FXYD2):c.114C>T (p.Phe38=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 755271	NM_001680.5(FXYD2):c.198G>A (p.Pro66=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2 +1 more	GLikely benign
Select item 748333	NM_001680.5(FXYD2):c.176+7G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736288	NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp)	FXYD2, FXYD6-FXYD2 (A37D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 734012	NM_001680.5(FXYD2):c.55T>C (p.Phe19Leu)	FXYD2, FXYD6-FXYD2 (F97L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 724848	NM_001680.5(FXYD2):c.198G>T (p.Pro66=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 719221	NM_001680.5(FXYD2):c.126C>T (p.Leu42=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 368933	NM_021603.4(FXYD2):c.20-2040C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 302527	NM_001680.5(FXYD2):c.-10A>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (5 prime UTR variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign
Select item 302526	NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)	FXYD2, FXYD6-FXYD2 (G10S +3 more)	Single nucleotide variant (missense variant)	FXYD2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 302525	NM_001680.5(FXYD2):c.45C>T (p.Asp15=)	FXYD2, FXYD6-FXYD2 (R98C)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 302524	NM_001680.5(FXYD2):c.76G>A (p.Val26Ile)	FXYD2, FXYD6-FXYD2 (V24I +2 more)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 302523	NM_001680.5(FXYD2):c.183C>T (p.Ile61=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 302522	NM_001680.5(FXYD2):c.195G>A (p.Glu65=)	FXYD2, FXYD6-FXYD2	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 2 +1 more	GBenign
Select item 302521	NM_001680.5(FXYD2):c.*1C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2 +1 more	GBenign
Select item 302520	NM_001680.5(FXYD2):c.*6+6C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 2 +1 more	GBenign/Likely benign
Select item 302519	NM_001680.5(FXYD2):c.*71G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302518	NM_001680.5(FXYD2):c.*78C>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302517	NM_001680.5(FXYD2):c.*105C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 302516	NM_001680.5(FXYD2):c.*124T>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GUncertain significance
Select item 302515	NM_001680.5(FXYD2):c.*176T>G	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 302514	NM_001680.5(FXYD2):c.*188C>T	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal Hypomagnesemia, Dominant	GUncertain significance
Select item 302513	NM_001680.5(FXYD2):c.*215G>A	FXYD2, FXYD6-FXYD2	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 2	GBenign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic

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