80347[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1263643	NC_000017.11:g.42561996C>A	COASY	Single nucleotide variant	not provided	GBenign
Select item 515336	NM_025233.7(COASY):c.-439C>G	COASY	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 680932	NM_025233.7(COASY):c.-395G>C	COASY, LOC130060907	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 383064	NM_025233.7(COASY):c.-235C>G	COASY, LOC130060907	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3026888	NM_025233.7(COASY):c.-206G>A	COASY, LOC130060907	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3147005	NM_025233.7(COASY):c.-198G>A	COASY, LOC130060907 (R5K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1031434	NM_025233.7(COASY):c.-141C>T	COASY (P24L)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 510582	NM_025233.7(COASY):c.-116C>T	COASY, LOC130060908	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 996878	NM_025233.7(COASY):c.-5G>A	COASY, LOC130060908 (G28D)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 441109	NM_025233.7(COASY):c.-1C>T	COASY, LOC130060908	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1081303	NM_025233.7(COASY):c.15G>T (p.Arg5=)	COASY, LOC130060908	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2429658	NM_025233.7(COASY):c.23T>G (p.Leu8Arg)	COASY, LOC130060908 (L37R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517020	NM_025233.7(COASY):c.25C>T (p.Leu9=)	COASY, LOC130060908	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1419851	NM_025233.7(COASY):c.40C>G (p.Pro14Ala)	COASY, LOC130060908 (P14A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1992543	NM_025233.7(COASY):c.41C>T (p.Pro14Leu)	COASY, LOC130060908 (P14L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2079887	NM_025233.7(COASY):c.53dup (p.Ala19fs)	COASY (A48fs +1 more)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1956305	NM_025233.7(COASY):c.54A>G (p.Leu18=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1908706	NM_025233.7(COASY):c.63C>T (p.Arg21=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 390090	NM_025233.7(COASY):c.81C>T (p.Thr27=)	COASY	Single nucleotide variant (synonymous variant)	COASY-related disorder +2 more	GBenign/Likely benign
Select item 1394683	NM_025233.7(COASY):c.86C>T (p.Ala29Val)	COASY (A29V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2153546	NM_025233.7(COASY):c.87G>A (p.Ala29=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 763215	NM_025233.7(COASY):c.93G>A (p.Arg31=)	COASY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465643	NM_025233.7(COASY):c.96G>A (p.Leu32=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1521816	NM_025233.7(COASY):c.109C>G (p.Leu37Val)	COASY (L37V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2177773	NM_025233.7(COASY):c.111C>T (p.Leu37=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 646524	NM_025233.7(COASY):c.113A>G (p.Tyr38Cys)	COASY (Y38C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 3019676	NM_025233.7(COASY):c.114T>C (p.Tyr38=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1018770	NM_025233.7(COASY):c.118C>T (p.His40Tyr)	COASY (H40Y +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1590439	NM_025233.7(COASY):c.121C>T (p.Leu41=)	COASY	Single nucleotide variant (synonymous variant)	COASY-related disorder +1 more	GLikely benign
Select item 1420013	NM_025233.7(COASY):c.128C>G (p.Pro43Arg)	COASY (P72R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1690703	NM_025233.7(COASY):c.161_171del (p.Gln54fs)	COASY (Q54fs +1 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 784790	NM_025233.7(COASY):c.156G>C (p.Gln52His)	COASY (Q81H +1 more)	Single nucleotide variant (missense variant)	COASY-related disorder +2 more	GBenign/Likely benign
Select item 647871	NM_025233.7(COASY):c.161A>C (p.Gln54Pro)	COASY (Q54P +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GUncertain significance
Select item 2983479	NM_025233.7(COASY):c.162G>A (p.Gln54=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 379956	NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)	COASY (S55Y +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GBenign
Select item 2091635	NM_025233.7(COASY):c.171C>T (p.Pro57=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 100663	NM_025233.7(COASY):c.175C>T (p.Gln59Ter)	COASY (Q59* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 6	GPathogenic
Select item 2262549	NM_025233.7(COASY):c.193C>T (p.Leu65Phe)	COASY (L65F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2745085	NM_025233.7(COASY):c.199T>G (p.Phe67Val)	COASY (F67V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2322794	NM_025233.7(COASY):c.201C>A (p.Phe67Leu)	COASY (F96L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426190	NM_025233.7(COASY):c.206C>T (p.Thr69Met)	COASY (T69M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 515445	NM_025233.7(COASY):c.207G>A (p.Thr69=)	COASY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1596852	NM_025233.7(COASY):c.210C>T (p.His70=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1356970	NM_025233.7(COASY):c.211C>T (p.Leu71Phe)	COASY (L71F +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1026633	NM_025233.7(COASY):c.211C>A (p.Leu71Ile)	COASY (L100I +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2202647	NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)	COASY (Y101C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1973533	NM_025233.7(COASY):c.224C>G (p.Ala75Gly)	COASY (A75G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2061879	NM_025233.7(COASY):c.239A>G (p.His80Arg)	COASY (H109R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GUncertain significance
Select item 2715261	NM_025233.7(COASY):c.241T>C (p.Leu81=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 3016995	NM_025233.7(COASY):c.246C>A (p.Asp82Glu)	COASY (D82E +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1321667	NM_025233.7(COASY):c.247G>T (p.Val83Phe)	COASY (V112F +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GUncertain significance
Select item 937570	NM_025233.7(COASY):c.248T>C (p.Val83Ala)	COASY (V83A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1031435	NM_025233.7(COASY):c.258_260del (p.Leu87del)	COASY (L116del +1 more)	Deletion (inframe_deletion)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2265782	NM_025233.7(COASY):c.268A>G (p.Ile90Val)	COASY (I119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1374368	NM_025233.7(COASY):c.275C>A (p.Thr92Asn)	COASY (T121N +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1957612	NM_025233.7(COASY):c.292C>T (p.Pro98Ser)	COASY (P98S +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1966317	NM_025233.7(COASY):c.293C>T (p.Pro98Leu)	COASY (P127L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2141571	NM_025233.7(COASY):c.306C>T (p.Thr102=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1360540	NM_025233.7(COASY):c.311T>A (p.Val104Asp)	COASY (V104D +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2916752	NM_025233.7(COASY):c.327C>T (p.His109=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1518372	NM_025233.7(COASY):c.340G>A (p.Val114Met)	COASY (V143M +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2739986	NM_025233.7(COASY):c.348A>G (p.Thr116=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2912567	NM_025233.7(COASY):c.350A>T (p.Asp117Val)	COASY (D146V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1541196	NM_025233.7(COASY):c.351T>C (p.Asp117=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1303689	NM_025233.7(COASY):c.352T>C (p.Phe118Leu)	COASY (F118L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144217	NM_025233.7(COASY):c.356A>G (p.Gln119Arg)	COASY (Q119R +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2009730	NM_025233.7(COASY):c.361C>G (p.Leu121Val)	COASY (L121V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1899292	NM_025233.7(COASY):c.383del (p.Pro128fs)	COASY (P128fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 6	GPathogenic
Select item 1473668	NM_025233.7(COASY):c.382C>A (p.Pro128Thr)	COASY (P128T +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2050004	NM_025233.7(COASY):c.383C>T (p.Pro128Leu)	COASY (P157L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2703023	NM_025233.7(COASY):c.384G>T (p.Pro128=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 620212	NM_025233.7(COASY):c.394C>T (p.Gln132Ter)	COASY (Q132* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1583875	NM_025233.7(COASY):c.402G>T (p.Val134=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2199142	NM_025233.7(COASY):c.403C>T (p.Arg135Cys)	COASY (R135C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2006058	NM_025233.7(COASY):c.407A>T (p.Tyr136Phe)	COASY (Y165F +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1545135	NM_025233.7(COASY):c.411C>T (p.Ala137=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1961121	NM_025233.7(COASY):c.417C>T (p.Ser139=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 1418640	NM_025233.7(COASY):c.422dup (p.Tyr141Ter)	COASY (Y141* +1 more)	Duplication (nonsense)	Neurodegeneration with brain iron accumulation 6	GPathogenic
Select item 2716492	NM_025233.7(COASY):c.423C>A (p.Tyr141Ter)	COASY (Y141* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 6	GPathogenic
Select item 1489463	NM_025233.7(COASY):c.434C>T (p.Pro145Leu)	COASY (P174L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2161697	NM_025233.7(COASY):c.437G>A (p.Arg146Gln)	COASY (R146Q +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2756758	NM_025233.7(COASY):c.438A>T (p.Arg146=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 774997	NM_025233.7(COASY):c.444C>G (p.Ala148=)	COASY	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2082742	NM_025233.7(COASY):c.447G>A (p.Ser149=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2019887	NM_025233.7(COASY):c.454C>T (p.Leu152=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2081913	NM_025233.7(COASY):c.460T>G (p.Ser154Ala)	COASY (S183A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 2197576	NM_025233.7(COASY):c.461C>G (p.Ser154Cys)	COASY (S154C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1195069	NM_025233.7(COASY):c.476_478del (p.Gly159del)	COASY (G159del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1698628	NM_025233.7(COASY):c.492del (p.Glu164fs)	COASY (E164fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation	GLikely pathogenic
Select item 707234	NM_025233.7(COASY):c.518C>A (p.Thr173Lys)	COASY (T173K +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GLikely benign
Select item 2749080	NM_025233.7(COASY):c.537C>T (p.Pro179=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 2730066	NM_025233.7(COASY):c.545_546del (p.Gly182fs)	COASY (G211fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 6	GPathogenic
Select item 2618198	NM_025233.7(COASY):c.545G>A (p.Gly182Glu)	COASY (G211E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1440256	NM_025233.7(COASY):c.547T>C (p.Ser183Pro)	COASY (S183P +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1516387	NM_025233.7(COASY):c.548C>T (p.Ser183Phe)	COASY (S212F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2267374	NM_025233.7(COASY):c.553_557del (p.Lys185fs)	COASY (K185fs +1 more)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 842604	NM_025233.7(COASY):c.557A>G (p.Gln186Arg)	COASY (Q186R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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