ClinVar for Gene (Select 90007) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358890	NM_001388306.1(MIDN):c.1483G>A (p.Val495Met)	MIDN (V451M +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 3294841	NM_001388306.1(MIDN):c.1306G>C (p.Glu436Gln)	MIDN (E393Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294839	NM_001388306.1(MIDN):c.1204C>T (p.Pro402Ser)	MIDN (P359S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294838	NM_001388306.1(MIDN):c.781G>C (p.Ala261Pro)	MIDN (A261P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294837	NM_001388306.1(MIDN):c.1363G>A (p.Ala455Thr)	MIDN (A412T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294836	NM_001388306.1(MIDN):c.931G>A (p.Val311Ile)	MIDN (V267I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294835	NM_001388306.1(MIDN):c.1021C>T (p.Arg341Trp)	MIDN (R297W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294834	NM_001388306.1(MIDN):c.637G>A (p.Ala213Thr)	MIDN (A170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294833	NM_001388306.1(MIDN):c.625C>G (p.Arg209Gly)	MIDN (R166G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3126407	NM_001388306.1(MIDN):c.1117C>G (p.Leu373Val)	MIDN (L330V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126406	NM_001388306.1(MIDN):c.93G>C (p.Met31Ile)	MIDN (M31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126405	NM_001388306.1(MIDN):c.1040G>A (p.Gly347Asp)	MIDN (G304D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126403	NM_001388306.1(MIDN):c.707G>A (p.Arg236Gln)	MIDN (R193Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126402	NM_001388306.1(MIDN):c.664C>T (p.Arg222Trp)	MIDN (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126401	NM_001388306.1(MIDN):c.232A>G (p.Thr78Ala)	MIDN (T78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126400	NM_001388306.1(MIDN):c.231C>A (p.Asp77Glu)	MIDN (D77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126399	NM_001388306.1(MIDN):c.197T>G (p.Val66Gly)	MIDN (V66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126398	NM_001388306.1(MIDN):c.13C>G (p.Pro5Ala)	MIDN (P5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126397	NM_001388306.1(MIDN):c.1411G>A (p.Asp471Asn)	MIDN (D471N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126396	NM_001388306.1(MIDN):c.1165G>A (p.Ala389Thr)	MIDN (A345T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3047179	NM_001388306.1(MIDN):c.514-3dup	MIDN	Duplication (intron variant)	MIDN-related disorder	GLikely benign
Select item 3046619	NM_001388306.1(MIDN):c.872C>T (p.Ala291Val)	MIDN (A247V +2 more)	Single nucleotide variant (missense variant)	MIDN-related disorder	GLikely benign
Select item 3045946	NM_001388306.1(MIDN):c.652G>A (p.Ala218Thr)	MIDN (A175T +1 more)	Single nucleotide variant (missense variant)	MIDN-related disorder	GLikely benign
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 2648911	NM_001388306.1(MIDN):c.1356G>A (p.Arg452=)	MIDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648910	NM_001388306.1(MIDN):c.927C>T (p.Gly309=)	MIDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614143	NM_001388306.1(MIDN):c.83C>T (p.Ala28Val)	MIDN (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608035	NM_001388306.1(MIDN):c.1427G>C (p.Gly476Ala)	MIDN (G476A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605332	NM_001388306.1(MIDN):c.347C>T (p.Ser116Phe)	MIDN (S116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561609	NM_001388306.1(MIDN):c.752C>T (p.Pro251Leu)	MIDN (P208L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550288	NM_001388306.1(MIDN):c.964G>A (p.Val322Ile)	MIDN (V279I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541795	NM_001388306.1(MIDN):c.956C>G (p.Ala319Gly)	MIDN (A319G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509178	NM_001388306.1(MIDN):c.845C>T (p.Thr282Met)	MIDN (T282M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492372	NM_001388306.1(MIDN):c.705C>G (p.Cys235Trp)	MIDN (C235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484665	NM_001388306.1(MIDN):c.595C>T (p.Leu199Phe)	MIDN (L156F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467398	NM_001388306.1(MIDN):c.164G>A (p.Gly55Glu)	MIDN (G55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462806	NM_001388306.1(MIDN):c.106C>T (p.His36Tyr)	MIDN (H36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	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 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	ADAMTSL5, APC2 +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2406399	NM_001388306.1(MIDN):c.1292C>T (p.Thr431Met)	MIDN (T388M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392773	NM_001388306.1(MIDN):c.883T>C (p.Ser295Pro)	MIDN (S295P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386051	NM_001388306.1(MIDN):c.1129G>A (p.Ala377Thr)	MIDN (A333T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2382835	NM_001388306.1(MIDN):c.811A>G (p.Thr271Ala)	MIDN (T228A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379218	NM_001388306.1(MIDN):c.1138T>A (p.Ser380Thr)	MIDN (S337T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370483	NM_001388306.1(MIDN):c.1256C>T (p.Pro419Leu)	MIDN (P375L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2368912	NM_001388306.1(MIDN):c.784G>A (p.Gly262Ser)	MIDN (G219S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349992	NM_001388306.1(MIDN):c.1039G>A (p.Gly347Ser)	MIDN (G347S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337338	NM_001388306.1(MIDN):c.866C>G (p.Pro289Arg)	MIDN (P245R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324082	NM_001388306.1(MIDN):c.691G>C (p.Val231Leu)	MIDN (V188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312435	NM_001388306.1(MIDN):c.1159G>A (p.Asp387Asn)	MIDN (D387N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308749	NM_001388306.1(MIDN):c.1148C>T (p.Ser383Leu)	MIDN (S339L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285742	NM_001388306.1(MIDN):c.715T>A (p.Ser239Thr)	MIDN (S196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275083	NM_001388306.1(MIDN):c.1261G>A (p.Asp421Asn)	MIDN (D421N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273616	NM_001388306.1(MIDN):c.908C>T (p.Pro303Leu)	MIDN (P303L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256510	NM_001388306.1(MIDN):c.1402G>C (p.Gly468Arg)	MIDN (G424R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250460	NM_001388306.1(MIDN):c.1393C>T (p.Arg465Cys)	MIDN (R465C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242926	NM_001388306.1(MIDN):c.794G>A (p.Arg265Gln)	MIDN (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240325	NM_001388306.1(MIDN):c.1480T>C (p.Ser494Pro)	MIDN (S494P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235594	NM_001388306.1(MIDN):c.530C>T (p.Ser177Leu)	MIDN (S134L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228900	NM_001388306.1(MIDN):c.1483G>C (p.Val495Leu)	MIDN (V451L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226262	NM_001388306.1(MIDN):c.1364C>T (p.Ala455Val)	MIDN (A455V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208282	NM_001388306.1(MIDN):c.190C>A (p.Leu64Ile)	MIDN (L64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807799	GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1	APC2, ATP5F1D +12 more	Copy number loss	not provided	GPathogenic
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 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 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 720211	NM_001388306.1(MIDN):c.1401C>T (p.Ala467=)	MIDN	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 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 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 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 221536	GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3	ATP5F1D, CBARP +2 more	Copy number gain	Breast ductal adenocarcinoma	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 152547	GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3	ATP5F1D, CBARP-DT +39 more	Copy number gain	See cases	GBenign
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 145202	GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3	ATP5F1D, CBARP +42 more	Copy number gain	See cases	GBenign
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

ClinVar

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Links from Gene

Items: 95