55278[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 916131	NC_000006.12:g.106539151_106629957del	LOC129389600, LOC129996910 +5 more	Deletion	Global developmental delay +3 more	GUncertain significance
Select item 2579180	GRCh38/hg38 6q21(chr6:106539306-106649299)x1	CRYBG1, LOC123775393 +5 more	Copy number loss	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GLikely pathogenic
Select item 1262522	NC_000006.12:g.106629533C>T	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288288	NM_018292.5(QRSL1):c.-55G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270339	NM_018292.5(QRSL1):c.-7G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2148273	NM_018292.5(QRSL1):c.10C>T (p.Arg4Trp)	LOC129996910, QRSL1 +1 more (R4W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026180	NM_018292.5(QRSL1):c.10C>A (p.Arg4=)	LOC129996910, QRSL1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1460859	NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe)	LOC129996910, QRSL1 +1 more (L6F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2958154	NM_018292.5(QRSL1):c.21A>C (p.Arg7=)	LOC129996910, QRSL1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2192433	NM_018292.5(QRSL1):c.22G>C (p.Glu8Gln)	LOC129996910, QRSL1 +1 more (E8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658640	NM_018292.5(QRSL1):c.24+17C>T	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1490289	NM_018292.5(QRSL1):c.24+20T>A	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264753	NM_018292.5(QRSL1):c.32C>T (p.Ala11Val)	QRSL1 (A11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2888853	NM_018292.5(QRSL1):c.33G>A (p.Ala11=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150383	NM_018292.5(QRSL1):c.46G>A (p.Gly16Ser)	QRSL1 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995136	NM_018292.5(QRSL1):c.75A>G (p.Gln25=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879671	NM_018292.5(QRSL1):c.141G>A (p.Val47=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064863	NM_018292.5(QRSL1):c.173G>T (p.Arg58Ile)	QRSL1 (R58I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 40	GUncertain significance
Select item 2872656	NM_018292.5(QRSL1):c.177T>C (p.Tyr59=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190234	NM_018292.5(QRSL1):c.181A>G (p.Asn61Asp)	QRSL1 (N61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273153	NM_018292.5(QRSL1):c.185-113T>A	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2110573	NM_018292.5(QRSL1):c.223G>A (p.Val75Ile)	QRSL1 (V75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895884	NM_018292.5(QRSL1):c.224T>C (p.Val75Ala)	QRSL1 (V75A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720366	NM_018292.5(QRSL1):c.255G>A (p.Glu85=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2152560	NM_018292.5(QRSL1):c.283+3A>G	QRSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1238070	NM_018292.5(QRSL1):c.283+132del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 2976109	NM_018292.5(QRSL1):c.284-11A>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3150382	NM_018292.5(QRSL1):c.284G>A (p.Gly95Asp)	QRSL1 (G95D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066938	NM_018292.5(QRSL1):c.320A>C (p.Lys107Thr)	QRSL1 (K107T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116463	NM_018292.5(QRSL1):c.339T>C (p.Ala113=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 834718	NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)	QRSL1 (G117E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 40	GPathogenic
Select item 1918645	NM_018292.5(QRSL1):c.355A>G (p.Thr119Ala)	QRSL1 (T119A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945572	NM_018292.5(QRSL1):c.363A>G (p.Leu121=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1228689	NM_018292.5(QRSL1):c.381-47A>C	QRSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1918646	NM_018292.5(QRSL1):c.381-16T>A	QRSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959505	NM_018292.5(QRSL1):c.381-9C>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599933	NM_018292.5(QRSL1):c.381-8G>A	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559414	NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	QRSL1 (G133V)	Single nucleotide variant (missense variant)	Cardiomyopathy, mitochondrial +1 more	GPathogenic/Likely pathogenic
Select item 3311961	NM_018292.5(QRSL1):c.410C>T (p.Pro137Leu)	QRSL1 (P137L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076049	NM_018292.5(QRSL1):c.475G>A (p.Glu159Lys)	QRSL1 (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983000	NM_018292.5(QRSL1):c.483A>G (p.Glu161=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599879	NM_018292.5(QRSL1):c.540G>A (p.Ser180=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2193248	NM_018292.5(QRSL1):c.544T>C (p.Phe182Leu)	QRSL1 (F182L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881954	NM_018292.5(QRSL1):c.555C>T (p.Tyr185=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559413	NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	QRSL1 (Y185*)	Single nucleotide variant (nonsense)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 3311962	NM_018292.5(QRSL1):c.556G>A (p.Ala186Thr)	QRSL1 (A186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327928	NM_018292.5(QRSL1):c.557+49_557+50del	QRSL1	Deletion (intron variant)	Combined oxidative phosphorylation deficiency 40	GBenign
Select item 1250025	NM_018292.5(QRSL1):c.557+201_557+205del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 1901988	NM_018292.5(QRSL1):c.585G>A (p.Ser195=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559415	NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA (p.Thr196_Pro199delinsAsnLysAsnHis)	QRSL1	Indel (missense variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 3067593	NM_018292.5(QRSL1):c.600del (p.Ala201fs)	QRSL1 (A201fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2069310	NM_018292.5(QRSL1):c.649C>T (p.Arg217Cys)	QRSL1 (R217C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444389	NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)	QRSL1 (S226L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 40	GUncertain significance
Select item 2067982	NM_018292.5(QRSL1):c.678G>A (p.Ser226=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1560114	NM_018292.5(QRSL1):c.686T>G (p.Val229Gly)	QRSL1 (V229G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2044670	NM_018292.5(QRSL1):c.694A>G (p.Ile232Val)	QRSL1 (I232V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2894562	NM_018292.5(QRSL1):c.733+7dup	QRSL1	Duplication (intron variant)	not provided	GLikely benign
Select item 1481404	NM_018292.5(QRSL1):c.745G>A (p.Gly249Arg)	QRSL1 (G249R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196031	NM_018292.5(QRSL1):c.756C>T (p.Pro252=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979301	NM_018292.5(QRSL1):c.761A>T (p.Asp254Val)	QRSL1 (D254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045813	NM_018292.5(QRSL1):c.777T>C (p.His259=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183485	NM_018292.5(QRSL1):c.788A>G (p.Asn263Ser)	QRSL1 (N263S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2045127	NM_018292.5(QRSL1):c.789T>C (p.Asn263=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2106180	NM_018292.5(QRSL1):c.798C>T (p.Phe266=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916391	NM_018292.5(QRSL1):c.798C>A (p.Phe266Leu)	QRSL1 (F266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147665	NM_018292.5(QRSL1):c.829C>G (p.Leu277Val)	QRSL1 (L277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379444	NM_018292.5(QRSL1):c.830T>G (p.Leu277Arg)	QRSL1 (L277R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535296	NM_018292.5(QRSL1):c.844C>G (p.Pro282Ala)	QRSL1 (P282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246099	NM_018292.5(QRSL1):c.849+26C>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656811	NM_018292.5(QRSL1):c.849+72A>C	QRSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299043	NM_018292.5(QRSL1):c.850-5A>G	QRSL1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 834719	NM_018292.5(QRSL1):c.850-3A>G	QRSL1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1968793	NM_018292.5(QRSL1):c.859G>A (p.Val287Ile)	QRSL1 (V287I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200714	NM_018292.5(QRSL1):c.863C>T (p.Pro288Leu)	QRSL1 (P288L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082546	NM_018292.5(QRSL1):c.864G>A (p.Pro288=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392595	NM_018292.5(QRSL1):c.880G>C (p.Val294Leu)	QRSL1 (V294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1442295	NM_018292.5(QRSL1):c.896C>T (p.Ser299Phe)	QRSL1 (S299F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2411476	NM_018292.5(QRSL1):c.934G>A (p.Val312Ile)	QRSL1 (V312I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2912898	NM_018292.5(QRSL1):c.988T>C (p.Leu330=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939478	NM_018292.5(QRSL1):c.994A>G (p.Thr332Ala)	QRSL1 (T332A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076015	NM_018292.5(QRSL1):c.1011G>A (p.Ser337=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2103650	NM_018292.5(QRSL1):c.1025T>C (p.Phe342Ser)	QRSL1 (F342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276906	NM_018292.5(QRSL1):c.1043-82dup	QRSL1	Duplication (intron variant)	not provided	GBenign
Select item 1244046	NM_018292.5(QRSL1):c.1043-82del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 1286395	NM_018292.5(QRSL1):c.1043-11C>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2531416	NM_018292.5(QRSL1):c.1043G>A (p.Gly348Asp)	QRSL1 (G348D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049422	NM_018292.5(QRSL1):c.1049G>A (p.Arg350Lys)	QRSL1 (R350K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3150378	NM_018292.5(QRSL1):c.1058T>C (p.Ile353Thr)	QRSL1 (I353T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115221	NM_018292.5(QRSL1):c.1062T>C (p.Asp354=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600783	NM_018292.5(QRSL1):c.1063G>T (p.Val355Leu)	QRSL1 (V355L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1907779	NM_018292.5(QRSL1):c.1078A>G (p.Met360Val)	QRSL1 (M360V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299044	NM_018292.5(QRSL1):c.1090A>G (p.Thr364Ala)	QRSL1 (T364A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2