29314[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 2395796	NM_020925.4(CACHD1):c.184G>T (p.Val62Phe)	CACHD1 (V62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278274	NM_020925.4(CACHD1):c.217G>A (p.Val73Ile)	CACHD1 (V73I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136296	NM_020925.4(CACHD1):c.232A>G (p.Ile78Val)	CACHD1 (I78V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136280	NM_020925.4(CACHD1):c.290A>G (p.Asn97Ser)	CACHD1 (N97S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 441089	NM_020925.4(CACHD1):c.293G>A (p.Arg98His)	CACHD1 (R98H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262678	NM_020925.4(CACHD1):c.296A>T (p.Tyr99Phe)	CACHD1 (Y99F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262680	NM_020925.4(CACHD1):c.343A>G (p.Thr115Ala)	CACHD1 (T115A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550526	NM_020925.4(CACHD1):c.344C>T (p.Thr115Met)	CACHD1 (T115M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211487	NM_020925.4(CACHD1):c.374T>C (p.Ile125Thr)	CACHD1 (I125T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549927	NM_020925.4(CACHD1):c.388A>G (p.Thr130Ala)	CACHD1 (T130A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568561	NM_020925.4(CACHD1):c.461G>A (p.Arg154Gln)	CACHD1 (R154Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297311	NM_020925.4(CACHD1):c.469A>G (p.Thr157Ala)	CACHD1 (T157A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136292	NM_020925.4(CACHD1):c.614G>A (p.Arg205Gln)	CACHD1 (R205Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262675	NM_020925.4(CACHD1):c.706G>A (p.Gly236Arg)	CACHD1 (G236R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617592	NM_020925.4(CACHD1):c.712T>G (p.Ser238Ala)	CACHD1 (S238A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136293	NM_020925.4(CACHD1):c.725C>T (p.Thr242Ile)	CACHD1 (T242I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136294	NM_020925.4(CACHD1):c.817G>A (p.Val273Ile)	CACHD1 (V273I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136295	NM_020925.4(CACHD1):c.889A>G (p.Met297Val)	CACHD1 (M297V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262682	NM_020925.4(CACHD1):c.916T>A (p.Ser306Thr)	CACHD1 (S306T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136297	NM_020925.4(CACHD1):c.965A>G (p.Gln322Arg)	CACHD1 (Q26R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478422	NM_020925.4(CACHD1):c.994A>C (p.Lys332Gln)	CACHD1 (K332Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293988	NM_020925.4(CACHD1):c.1036G>T (p.Ala346Ser)	CACHD1 (A50S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361693	NM_020925.4(CACHD1):c.1067A>G (p.Glu356Gly)	CACHD1 (E60G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136298	NM_020925.4(CACHD1):c.1079C>T (p.Ala360Val)	CACHD1 (A360V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638870	NM_020925.4(CACHD1):c.1176A>G (p.Lys392=)	CACHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136276	NM_020925.4(CACHD1):c.1196A>T (p.Asp399Val)	CACHD1 (D399V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136277	NM_020925.4(CACHD1):c.1244C>A (p.Ala415Asp)	CACHD1 (A119D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136278	NM_020925.4(CACHD1):c.1318T>C (p.Tyr440His)	CACHD1 (Y440H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241136	NM_020925.4(CACHD1):c.1337G>A (p.Arg446Gln)	CACHD1 (R446Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241317	NM_020925.4(CACHD1):c.1354G>A (p.Val452Ile)	CACHD1 (V156I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136279	NM_020925.4(CACHD1):c.1376A>T (p.Asp459Val)	CACHD1 (D163V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973047	NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn)	CACHD1 (D463N +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3262677	NM_020925.4(CACHD1):c.1534G>A (p.Asp512Asn)	CACHD1 (D216N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136281	NM_020925.4(CACHD1):c.1595C>T (p.Pro532Leu)	CACHD1 (P236L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346191	NM_020925.4(CACHD1):c.1649G>A (p.Arg550Gln)	CACHD1 (R550Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553652	NM_020925.4(CACHD1):c.1687A>G (p.Ile563Val)	CACHD1 (I563V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638871	NM_020925.4(CACHD1):c.1722C>T (p.His574=)	CACHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229905	NM_020925.4(CACHD1):c.1793C>T (p.Thr598Ile)	CACHD1 (T302I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595020	NM_020925.4(CACHD1):c.1819A>G (p.Ile607Val)	CACHD1 (I607V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262681	NM_020925.4(CACHD1):c.1873A>G (p.Ser625Gly)	CACHD1 (S625G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136283	NM_020925.4(CACHD1):c.1892G>A (p.Arg631Gln)	CACHD1 (R335Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277097	NM_020925.4(CACHD1):c.2035G>C (p.Glu679Gln)	CACHD1 (E383Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136284	NM_020925.4(CACHD1):c.2084C>T (p.Pro695Leu)	CACHD1 (P399L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262673	NM_020925.4(CACHD1):c.2108A>G (p.Asn703Ser)	CACHD1 (N407S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507654	NM_020925.4(CACHD1):c.2197A>G (p.Ile733Val)	CACHD1 (I437V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360345	NM_020925.4(CACHD1):c.2215G>A (p.Val739Ile)	CACHD1 (V443I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274382	NM_020925.4(CACHD1):c.2305T>A (p.Leu769Met)	CACHD1 (L769M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313658	NM_020925.4(CACHD1):c.2317A>G (p.Thr773Ala)	CACHD1 (T477A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136285	NM_020925.4(CACHD1):c.2344G>A (p.Ala782Thr)	CACHD1 (A486T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224645	NM_020925.4(CACHD1):c.2459T>C (p.Val820Ala)	CACHD1 (V524A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542838	NM_020925.4(CACHD1):c.2490A>T (p.Gln830His)	CACHD1 (Q830H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369507	NM_020925.4(CACHD1):c.2506A>G (p.Ile836Val)	CACHD1 (I540V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136287	NM_020925.4(CACHD1):c.2511G>A (p.Arg837=)	CACHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2329657	NM_020925.4(CACHD1):c.2527G>A (p.Asp843Asn)	CACHD1 (D547N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136288	NM_020925.4(CACHD1):c.2552C>T (p.Pro851Leu)	CACHD1 (P851L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485215	NM_020925.4(CACHD1):c.2563G>C (p.Asp855His)	CACHD1 (D855H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455481	NM_020925.4(CACHD1):c.2641C>A (p.His881Asn)	CACHD1 (H585N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335673	NM_020925.4(CACHD1):c.2675G>T (p.Ser892Ile)	CACHD1 (S596I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327766	NM_020925.4(CACHD1):c.2680A>T (p.Ser894Cys)	CACHD1 (S894C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371245	NM_020925.4(CACHD1):c.2726C>T (p.Ala909Val)	CACHD1 (A909V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3262674	NM_020925.4(CACHD1):c.2855G>A (p.Ser952Asn)	CACHD1 (S656N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316801	NM_020925.4(CACHD1):c.2882G>C (p.Cys961Ser)	CACHD1 (C961S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492031	NM_020925.4(CACHD1):c.2989G>A (p.Glu997Lys)	CACHD1 (E701K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221565	NM_020925.4(CACHD1):c.3040G>C (p.Asp1014His)	CACHD1 (D718H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312930	NM_020925.4(CACHD1):c.3129G>A (p.Met1043Ile)	CACHD1 (M747I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262679	NM_020925.4(CACHD1):c.3173C>T (p.Ala1058Val)	CACHD1 (A762V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585131	NM_020925.4(CACHD1):c.3244+3A>G	CACHD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2483340	NM_020925.4(CACHD1):c.3279C>G (p.Ser1093Arg)	CACHD1 (S1093R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234578	NM_020925.4(CACHD1):c.3316T>G (p.Cys1106Gly)	CACHD1 (C1106G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399182	NM_020925.4(CACHD1):c.3338C>T (p.Ala1113Val)	CACHD1 (A1113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136289	NM_020925.4(CACHD1):c.3371G>A (p.Arg1124Gln)	CACHD1 (R1124Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592416	NM_020925.4(CACHD1):c.3374G>A (p.Ser1125Asn)	CACHD1 (S1125N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136290	NM_020925.4(CACHD1):c.3419G>A (p.Arg1140His)	CACHD1 (R844H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531280	NM_020925.4(CACHD1):c.3508G>A (p.Ala1170Thr)	CACHD1 (A1170T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318461	NM_020925.4(CACHD1):c.3520C>G (p.Arg1174Gly)	CACHD1 (R878G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374801	NM_020925.4(CACHD1):c.3530A>G (p.His1177Arg)	CACHD1 (H1177R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396381	NM_020925.4(CACHD1):c.3547C>T (p.Arg1183Cys)	CACHD1 (R1183C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136291	NM_020925.4(CACHD1):c.3565T>C (p.Ser1189Pro)	CACHD1 (S1189P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543567	NM_020925.4(CACHD1):c.3571A>G (p.Thr1191Ala)	CACHD1 (T1191A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393067	NM_020925.4(CACHD1):c.3655G>T (p.Gly1219Trp)	CACHD1 (G1219W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545680	NM_020925.4(CACHD1):c.3704C>T (p.Pro1235Leu)	CACHD1 (P939L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206169	NM_020925.4(CACHD1):c.3707A>G (p.Gln1236Arg)	CACHD1 (Q1236R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357365	NM_020925.4(CACHD1):c.3746G>A (p.Arg1249Gln)	CACHD1 (R1249Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3063010	GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1	ALG6, CACHD1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic

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