4205[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 149682	GRCh38/hg38 15q26.3(chr15:98976591-99598500)x3	LINC02244, LOC105371017 +35 more	Copy number gain	See cases	GUncertain significance
Select item 148287	GRCh38/hg38 15q26.3(chr15:99057691-99598500)x3	LINC02244, LOC105371017 +30 more	Copy number gain	See cases	GLikely benign
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 148204	GRCh38/hg38 15q26.3(chr15:99299033-99997136)x1	ADAMTS17, LINC02244 +28 more	Copy number loss	See cases	GLikely benign
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 798876	NM_001319206.4(MEF2A):c.9G>A (p.Arg3=)	MEF2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049163	NM_001319206.4(MEF2A):c.123_124del (p.Cys41_Glu42delinsTer)	MEF2A	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 3294086	NM_001319206.4(MEF2A):c.149G>C (p.Ser50Thr)	MEF2A (S50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294084	NM_001319206.4(MEF2A):c.232A>G (p.Ser78Gly)	MEF2A (S78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753730	NM_001319206.4(MEF2A):c.390+167G>A	MEF2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2391955	NM_001319206.4(MEF2A):c.403C>T (p.Pro135Ser)	MEF2A (P69S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064723	NM_001319206.4(MEF2A):c.407A>G (p.Gln136Arg)	MEF2A (Q136R +6 more)	Single nucleotide variant (missense variant +1 more)	Coronary artery disease, autosomal dominant, 1	GUncertain significance
Select item 2296347	NM_001319206.4(MEF2A):c.427A>C (p.Thr143Pro)	MEF2A (T75P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294085	NM_001319206.4(MEF2A):c.562A>C (p.Asn188His)	MEF2A (N190H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041576	NM_001319206.4(MEF2A):c.611-8G>A	MEF2A	Single nucleotide variant (intron variant)	MEF2A-related disorder	GBenign
Select item 2243622	NM_001319206.4(MEF2A):c.623G>A (p.Ser208Asn)	MEF2A (S208N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379604	NM_001319206.4(MEF2A):c.647A>G (p.Asn216Ser)	MEF2A (N148S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538288	NM_001319206.4(MEF2A):c.662G>A (p.Ser221Asn)	MEF2A (S153N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527803	NM_001319206.4(MEF2A):c.722G>A (p.Gly241Asp)	MEF2A (G129D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 8950	NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)	MEF2A (N263S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 8949	NM_001319206.4(MEF2A):c.830C>T (p.Pro277Leu)	MEF2A (P279L +4 more)	Single nucleotide variant (missense variant +1 more)	Coronary artery disease/myocardial infarction	GPathogenic
Select item 8951	NM_001319206.4(MEF2A):c.842G>A (p.Gly281Asp)	MEF2A (G283D +4 more)	Single nucleotide variant (missense variant +1 more)	Coronary artery disease/myocardial infarction	GPathogenic
Select item 3058865	NM_001319206.4(MEF2A):c.885T>C (p.Asn295=)	MEF2A	Single nucleotide variant (synonymous variant +1 more)	MEF2A-related disorder	GBenign
Select item 3059607	NM_001319206.4(MEF2A):c.891G>A (p.Gln297=)	MEF2A	Single nucleotide variant (synonymous variant +1 more)	MEF2A-related disorder	GBenign
Select item 2547042	NM_001319206.4(MEF2A):c.916C>G (p.Gln306Glu)	MEF2A (Q186E +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735182	NM_001319206.4(MEF2A):c.930C>T (p.Thr310=)	MEF2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2318812	NM_001319206.4(MEF2A):c.947C>T (p.Thr316Ile)	MEF2A (T196I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155270	GRCh38/hg38 15q26.3(chr15:99710106-100472153)x3	ADAMTS17, CERS3 +25 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2264622	NM_001319206.4(MEF2A):c.1058C>T (p.Ser353Leu)	MEF2A (S233L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762680	NM_001319206.4(MEF2A):c.1074G>A (p.Ser358=)	MEF2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271747	NM_001319206.4(MEF2A):c.1101G>C (p.Gln367His)	MEF2A (Q299H +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614361	NM_001319206.4(MEF2A):c.1112G>C (p.Gly371Ala)	MEF2A (G297A +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125102	NM_001319206.4(MEF2A):c.1127G>A (p.Ser376Asn)	MEF2A (S263N +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043823	NM_001319206.4(MEF2A):c.1137T>C (p.Val379=)	MEF2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2609090	NM_001319206.4(MEF2A):c.1231C>T (p.Arg411Cys)	MEF2A (R403C +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056101	NM_001319206.4(MEF2A):c.1245G>A (p.Ser415=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign
Select item 778574	NM_001319206.4(MEF2A):c.1253AGC[13] (p.Gln427_Gln428dup)	MEF2A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 3039553	NM_001319206.4(MEF2A):c.1253AGC[6] (p.Gln424_Gln428del)	MEF2A	Microsatellite (inframe deletion)	MEF2A-related disorder	GBenign
Select item 403080	NM_001319206.4(MEF2A):c.1253AGC[9] (p.Gln427_Gln428del)	MEF2A	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 3250510	NM_001319206.4(MEF2A):c.1284GCC[2] (p.Pro433del)	MEF2A (P157del +13 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3044407	NM_001319206.4(MEF2A):c.1286C>A (p.Pro429Gln)	MEF2A (P153Q +13 more)	Single nucleotide variant (missense variant)	MEF2A-related disorder	GLikely benign
Select item 3125103	NM_001319206.4(MEF2A):c.1289C>T (p.Pro430Leu)	MEF2A (P356L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314675	NM_001319206.4(MEF2A):c.1289C>A (p.Pro430Gln)	MEF2A (P310Q +13 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465526	NM_001319206.4(MEF2A):c.1297C>T (p.Pro433Ser)	MEF2A (P313S +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779963	NM_001319206.4(MEF2A):c.1299G>A (p.Pro433=)	MEF2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 8948	NM_001319206.4(MEF2A):c.1313_1333del (p.Gln438_Pro444del)	MEF2A	Deletion (inframe_deletion)	Coronary artery disease, autosomal dominant, 1	GPathogenic
Select item 3059085	NM_001319206.4(MEF2A):c.1347G>T (p.Gly449=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign
Select item 3056661	NM_001319206.4(MEF2A):c.1434A>G (p.Pro478=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign
Select item 779275	NM_001319206.4(MEF2A):c.1435A>G (p.Ile479Val)	MEF2A (I403V +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3125104	NM_001319206.4(MEF2A):c.1439T>C (p.Val480Ala)	MEF2A (V474A +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600075	NM_001319206.4(MEF2A):c.1490G>A (p.Arg497Gln)	MEF2A (R384Q +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1808231	GRCh37/hg19 15q26.3(chr15:99772763-100195207)x3	LRRC28, MEF2A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807891	GRCh37/hg19 15q26.3(chr15:99507922-100153799)x3	LRRC28, MEF2A +3 more	Copy number gain	not provided	GUncertain significance
Select item 1526478	GRCh37/hg19 15q26.3(chr15:99682151-100147153)	LRRC28, MEF2A +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	GUncertain significance
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 1077189	Single allele	ADAMTS17, ALDH1A3 +12 more	Deletion	Chromosome 15q26-qter deletion syndrome	GLikely pathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980651	GRCh37/hg19 15q26.3(chr15:99508457-100415587)x3	PGPEP1L, SYNM +4 more	Copy number gain	not provided	GUncertain significance
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic

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