ClinVar for Gene (Select 91300) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312038	NM_138774.4(R3HDM4):c.143A>G (p.Gln48Arg)	R3HDM4 (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312036	NM_138774.4(R3HDM4):c.466C>G (p.Arg156Gly)	R3HDM4 (R156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312035	NM_138774.4(R3HDM4):c.31C>T (p.Pro11Ser)	LOC130062850, R3HDM4 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312034	NM_138774.4(R3HDM4):c.634A>G (p.Met212Val)	R3HDM4 (M212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312033	NM_138774.4(R3HDM4):c.32C>T (p.Pro11Leu)	LOC130062850, R3HDM4 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312032	NM_138774.4(R3HDM4):c.446G>C (p.Gly149Ala)	R3HDM4 (G149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312031	NM_138774.4(R3HDM4):c.445G>A (p.Gly149Ser)	R3HDM4 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150523	NM_138774.4(R3HDM4):c.784G>A (p.Ala262Thr)	R3HDM4 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150522	NM_138774.4(R3HDM4):c.407A>T (p.Tyr136Phe)	R3HDM4 (Y136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150521	NM_138774.4(R3HDM4):c.337G>A (p.Ala113Thr)	R3HDM4 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150519	NM_138774.4(R3HDM4):c.262G>A (p.Gly88Ser)	R3HDM4 (G88S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150518	NM_138774.4(R3HDM4):c.259G>A (p.Gly87Arg)	R3HDM4 (G87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2615203	NM_138774.4(R3HDM4):c.478G>A (p.Asp160Asn)	R3HDM4 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589919	NM_138774.4(R3HDM4):c.320C>T (p.Ala107Val)	R3HDM4 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526878	NM_138774.4(R3HDM4):c.53C>T (p.Pro18Leu)	LOC130062850, R3HDM4 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458269	NM_138774.4(R3HDM4):c.431A>G (p.Lys144Arg)	R3HDM4 (K144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +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 2411901	NM_138774.4(R3HDM4):c.449C>A (p.Pro150His)	R3HDM4 (P150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409170	NM_138774.4(R3HDM4):c.764C>T (p.Pro255Leu)	R3HDM4 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406926	NM_138774.4(R3HDM4):c.437G>C (p.Arg146Pro)	R3HDM4 (R146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364793	NM_138774.4(R3HDM4):c.58G>T (p.Gly20Trp)	LOC130062850, R3HDM4 (G20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329080	NM_138774.4(R3HDM4):c.418G>A (p.Glu140Lys)	R3HDM4 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299902	NM_138774.4(R3HDM4):c.496C>G (p.Arg166Gly)	R3HDM4 (R166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276275	NM_138774.4(R3HDM4):c.45G>T (p.Glu15Asp)	LOC130062850, R3HDM4 (E15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270479	NM_138774.4(R3HDM4):c.711C>G (p.Asp237Glu)	R3HDM4 (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249631	NM_138774.4(R3HDM4):c.322G>A (p.Glu108Lys)	R3HDM4 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219221	NM_138774.4(R3HDM4):c.607G>A (p.Val203Met)	R3HDM4 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209023	NM_138774.4(R3HDM4):c.469A>G (p.Arg157Gly)	R3HDM4 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 833462	NC_000019.9:g.(?_852319)_(1226656_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832758	NC_000019.9:g.(?_852326)_(1226646_?)del	SBNO2, POLR2E +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +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 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
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	CFD, CNN2 +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)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 458009	NC_000019.9:g.(?_852323)_(1207208_?)dup	SBNO2, ABCA7 +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 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 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
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: 67