ClinVar for Gene (Select 23526) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648900	NM_012292.5(ARHGAP45):c.2667T>G (p.Gly889=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648899	NM_012292.5(ARHGAP45):c.2292C>T (p.Ser764=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2407138	NM_012292.5(ARHGAP45):c.626C>T (p.Thr209Met)	ARHGAP45 (T209M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385231	NM_012292.5(ARHGAP45):c.1699G>A (p.Ala567Thr)	ARHGAP45 (A571T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364532	NM_012292.5(ARHGAP45):c.2945C>G (p.Pro982Arg)	ARHGAP45 (P865R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346478	NM_012292.5(ARHGAP45):c.130G>A (p.Gly44Arg)	ARHGAP45 (G60R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248801	NM_012292.5(ARHGAP45):c.329C>T (p.Pro110Leu)	ARHGAP45 (P110L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240863	NM_012292.5(ARHGAP45):c.1264C>T (p.Leu422Phe)	ARHGAP45 (L426F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235484	NM_012292.5(ARHGAP45):c.2833G>A (p.Glu945Lys)	ARHGAP45 (E961K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233838	NM_012292.5(ARHGAP45):c.1159G>A (p.Ala387Thr)	ARHGAP45, LOC130062876 (A387T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227115	NM_012292.5(ARHGAP45):c.3262G>A (p.Gly1088Arg)	ARHGAP45 (G1104R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219149	NM_012292.5(ARHGAP45):c.1304C>T (p.Pro435Leu)	ARHGAP45 (P435L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1262943	NM_012292.5(ARHGAP45):c.412T>C (p.Leu138=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1257224	NM_012292.5(ARHGAP45):c.422-1836C>T	ARHGAP45 (P9S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1225485	NM_012292.5(ARHGAP45):c.416G>A (p.Arg139His)	ARHGAP45 (R139H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 833462	NC_000019.9:g.(?_852319)_(1226656_?)del	ARHGAP45, ABCA7 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832758	NC_000019.9:g.(?_852326)_(1226646_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 777348	NM_012292.5(ARHGAP45):c.3269A>G (p.Glu1090Gly)	ARHGAP45 (E725G +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777347	NM_012292.5(ARHGAP45):c.3033G>C (p.Pro1011=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771775	NM_012292.5(ARHGAP45):c.1277C>T (p.Ala426Val)	ARHGAP45 (A426V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 762744	NM_012292.5(ARHGAP45):c.3294A>G (p.Ser1098=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741932	NM_012292.5(ARHGAP45):c.150C>T (p.Pro50=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734864	NM_012292.5(ARHGAP45):c.3055G>A (p.Gly1019Arg)	ARHGAP45 (G1023R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734863	NM_012292.5(ARHGAP45):c.2518-4G>A	ARHGAP45, LOC132090902	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729207	NM_012292.5(ARHGAP45):c.3040G>C (p.Glu1014Gln)	ARHGAP45 (E1018Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717572	NM_012292.5(ARHGAP45):c.3096G>A (p.Ser1032=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710671	NM_012292.5(ARHGAP45):c.3257GGGACG[4] (p.1086GD[4])	ARHGAP45	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 710670	NM_012292.5(ARHGAP45):c.2415G>A (p.Val805=)	ARHGAP45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 584311	NC_000019.9:g.(?_852323)_(1222011_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 584004	NC_000019.9:g.(?_852323)_(1226652_?)del	R3HDM4, SBNO2 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 583605	NC_000019.9:g.(?_852319)_(1226656_?)dup	ABCA7, ARHGAP45 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	MIER2, MIR1909 +100 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 458009	NC_000019.9:g.(?_852323)_(1207208_?)dup	TMEM259, WDR18 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 219015	GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	POLR2E, PRTN3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 68