LOC113839516[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1295712	NM_004408.4(DNM1):c.162-106G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677416	NM_004408.4(DNM1):c.162-34T>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392023	NM_004408.4(DNM1):c.162-17C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1056324	NM_004408.4(DNM1):c.162-9T>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1617900	NM_004408.4(DNM1):c.162-8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2801298	NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)	DNM1, LOC113839516 (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2630523	NM_004408.4(DNM1):c.179G>A (p.Gly60Glu)	DNM1, LOC113839516 (G60E)	Single nucleotide variant (missense variant)	DNM1-related disorder	GLikely pathogenic
Select item 2243846	NM_004408.4(DNM1):c.185G>A (p.Gly62Asp)	DNM1, LOC113839516 (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321293	NM_004408.4(DNM1):c.194C>T (p.Thr65Ile)	DNM1, LOC113839516 (T65I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2755885	NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)	DNM1, LOC113839516 (R66P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 429456	NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)	DNM1, LOC113839516 (R67C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440953	NM_004408.4(DNM1):c.204C>G (p.Pro68=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2713346	NM_004408.4(DNM1):c.208G>A (p.Val70Ile)	DNM1, LOC113839516 (V70I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2440955	NM_004408.4(DNM1):c.208G>C (p.Val70Leu)	DNM1, LOC113839516 (V70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797515	NM_004408.4(DNM1):c.216G>A (p.Gln72=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2818003	NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)	DNM1, LOC113839516 (N75I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 588416	NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)	DNM1, LOC113839516 (N75S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 2201189	NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)	DNM1, LOC113839516 (T78K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 493492	NM_004408.4(DNM1):c.235+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 1095894	NM_004408.4(DNM1):c.235+9C>T	LOC113839516, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 681559	NM_004408.4(DNM1):c.235+10C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely benign
Select item 2913511	NM_004408.4(DNM1):c.235+18C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2135542	NM_004408.4(DNM1):c.236-17G>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2854004	NM_004408.4(DNM1):c.236-2A>C	DNM1, LOC113839516	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 2869199	NM_004408.4(DNM1):c.243C>A (p.Ala81=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2021851	NM_004408.4(DNM1):c.246G>A (p.Glu82=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 959310	NM_004408.4(DNM1):c.261G>A (p.Lys87=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +1 more	GBenign/Likely benign
Select item 1569925	NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)	DNM1, LOC113839516 (G88A)	Indel (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 2746451	NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)	DNM1, LOC113839516 (K89E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1412439	NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)	DNM1, LOC113839516 (K89N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1339244	NM_004408.4(DNM1):c.284A>G (p.Glu95Gly)	DNM1, LOC113839516 (E95G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2427911	NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)	DNM1, LOC113839516 (E95D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1307601	NM_004408.4(DNM1):c.290T>C (p.Val97Ala)	LOC113839516, DNM1 (V97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703398	NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)	DNM1, LOC113839516 (R98C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GUncertain significance
Select item 1046154	NM_004408.4(DNM1):c.292C>G (p.Arg98Gly)	DNM1, LOC113839516 (R98G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1405410	NM_004408.4(DNM1):c.293G>A (p.Arg98His)	DNM1, LOC113839516 (R98H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1329810	NM_004408.4(DNM1):c.298G>A (p.Glu100Lys)	DNM1, LOC113839516 (E100K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577348	NM_004408.4(DNM1):c.304G>A (p.Glu102Lys)	DNM1, LOC113839516 (E102K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2440945	NM_004408.4(DNM1):c.309C>G (p.Ala103=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 380778	NM_004408.4(DNM1):c.312G>A (p.Glu104=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2168128	NM_004408.4(DNM1):c.327C>T (p.Thr109=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 383891	NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)	LOC113839516, DNM1 (T111S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2575736	NM_004408.4(DNM1):c.335A>C (p.Asn112Thr)	DNM1, LOC113839516 (N112T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039063	NM_004408.4(DNM1):c.342C>T (p.Gly114=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2500128	NM_004408.4(DNM1):c.350del (p.Pro117fs)	DNM1, LOC113839516 (P117fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 31B	GPathogenic
Select item 1732142	NM_004408.4(DNM1):c.350C>G (p.Pro117Arg)	DNM1, LOC113839516 (P117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 944468	NM_004408.4(DNM1):c.350C>T (p.Pro117Leu)	DNM1, LOC113839516 (P117L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2440947	NM_004408.4(DNM1):c.352G>C (p.Val118Leu)	DNM1, LOC113839516 (V118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008455	NM_004408.4(DNM1):c.352G>A (p.Val118Met)	DNM1, LOC113839516 (V118M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1631713	NM_004408.4(DNM1):c.354G>A (p.Val118=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1732780	NM_004408.4(DNM1):c.356C>T (p.Pro119Leu)	DNM1, LOC113839516 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431935	NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)	DNM1, LOC113839516	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1187488	NM_004408.4(DNM1):c.357T>A (p.Pro119=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 383230	NM_004408.4(DNM1):c.357T>C (p.Pro119=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 377330	NM_004408.4(DNM1):c.358A>G (p.Ile120Val)	DNM1, LOC113839516 (I120V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GUncertain significance
Select item 1568902	NM_004408.4(DNM1):c.375C>T (p.Tyr125=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 570619	NM_004408.4(DNM1):c.383A>G (p.His128Arg)	DNM1, LOC113839516 (H128R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 1469912	NM_004408.4(DNM1):c.384C>T (p.His128=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 3011978	NM_004408.4(DNM1):c.385+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2958432	NM_004408.4(DNM1):c.385+11T>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2859074	NM_004408.4(DNM1):c.385+18G>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1553715	NM_004408.4(DNM1):c.385+18G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 679298	NM_004408.4(DNM1):c.385+54C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 679299	NM_004408.4(DNM1):c.385+135T>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1636747	NM_004408.4(DNM1):c.386-19C>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 513454	NM_004408.4(DNM1):c.386-17C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 387856	NM_004408.4(DNM1):c.386-14G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2572772	NM_004408.4(DNM1):c.386-12C>A	LOC113839516, DNM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2141096	NM_004408.4(DNM1):c.386-11G>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 547050	NM_004408.4(DNM1):c.386-8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 754558	NM_004408.4(DNM1):c.386-7T>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1966268	NM_004408.4(DNM1):c.386-4C>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1327338	NM_004408.4(DNM1):c.386-1G>A	DNM1, LOC113839516	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 766718	NM_004408.4(DNM1):c.387G>A (p.Val129=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2582592	NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)	DNM1, LOC113839516 (L132R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 663632	NM_004408.4(DNM1):c.402G>A (p.Leu134=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2760872	NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)	DNM1, LOC113839516 (D136N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2967997	NM_004408.4(DNM1):c.411G>A (p.Leu137=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 761976	NM_004408.4(DNM1):c.411G>T (p.Leu137=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1803021	NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)	DNM1, LOC113839516	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 588754	NM_004408.4(DNM1):c.414C>T (p.Pro138=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 588356	NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)	DNM1, LOC113839516 (G139R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +1 more	GLikely pathogenic

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