14188[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 883371	NM_006576.4(AVIL):c.*433A>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310028	NM_006576.4(AVIL):c.*404T>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310029	NM_006576.4(AVIL):c.*341G>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GBenign
Select item 310030	NM_006576.4(AVIL):c.*302C>G	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GBenign
Select item 3036171	NM_006576.4(AVIL):c.2412G>A (p.Leu804=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related condition	GLikely benign
Select item 1225336	NM_006576.4(AVIL):c.2346+130A>G	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386846	NM_006576.4(AVIL):c.2331C>A (p.Asn777Lys)	AVIL, TSFM (N777K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132394	NM_006576.4(AVIL):c.2322G>C (p.Glu774Asp)	AVIL, TSFM (E774D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049077	NM_006576.4(AVIL):c.2292G>A (p.Leu764=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related condition	GLikely benign
Select item 2485465	NM_006576.4(AVIL):c.2282T>C (p.Ile761Thr)	AVIL, TSFM (I761T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2439445	NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)	AVIL, TSFM (N750K)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
Select item 3054986	NM_006576.4(AVIL):c.2239C>T (p.Leu747Phe)	AVIL, TSFM (L747F)	Single nucleotide variant (missense variant +1 more)	AVIL-related condition	GLikely benign
Select item 2392523	NM_006576.4(AVIL):c.2195C>G (p.Ala732Gly)	AVIL, TSFM (A732G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132393	NM_006576.4(AVIL):c.2188G>C (p.Gly730Arg)	AVIL, TSFM (G730R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734180	NM_006576.4(AVIL):c.2152-9T>C	TSFM, AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231318	NM_006576.4(AVIL):c.2151+170G>A	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226718	NM_006576.4(AVIL):c.2151+142A>G	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2622868	NM_006576.4(AVIL):c.2135A>G (p.Asp712Gly)	AVIL, TSFM (D712G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050431	NM_006576.4(AVIL):c.2037G>A (p.Leu679=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related condition	GLikely benign
Select item 3132392	NM_006576.4(AVIL):c.2011G>A (p.Ala671Thr)	AVIL, TSFM (A671T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132391	NM_006576.4(AVIL):c.2009G>C (p.Ser670Thr)	AVIL, TSFM (S670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386123	NM_006576.4(AVIL):c.2009G>T (p.Ser670Ile)	AVIL, TSFM (S670I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054530	NM_006576.4(AVIL):c.1999G>A (p.Glu667Lys)	AVIL, TSFM (E667K)	Single nucleotide variant (missense variant +1 more)	AVIL-related condition	GUncertain significance
Select item 1202459	NM_006576.4(AVIL):c.1976T>C (p.Ile659Thr)	AVIL, TSFM (I659T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 684651	NM_006576.4(AVIL):c.1964dup (p.Phe656fs)	AVIL, TSFM (F656fs)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
Select item 3028934	NM_006576.4(AVIL):c.1963-7_1963-6insTG	AVIL, TSFM	Insertion (intron variant)	AVIL-related condition	GLikely benign
Select item 3034124	NM_006576.4(AVIL):c.1963-226T>A	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	TSFM-related condition	GLikely benign
Select item 1180580	NM_006576.4(AVIL):c.1963-316C>T	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GBenign
Select item 1180581	NM_006576.4(AVIL):c.1963-397C>T	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GBenign
Select item 1250094	NM_006576.4(AVIL):c.1962+228T>C	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036701	NM_006576.4(AVIL):c.1936G>A (p.Val646Met)	AVIL (V646M)	Single nucleotide variant (missense variant)	AVIL-related condition	GUncertain significance
Select item 3132390	NM_006576.4(AVIL):c.1885G>A (p.Val629Ile)	AVIL (V629I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410896	NM_006576.4(AVIL):c.1876G>A (p.Gly626Ser)	AVIL (G626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267132	NM_006576.4(AVIL):c.1840G>A (p.Val614Ile)	AVIL (V614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036838	NM_006576.4(AVIL):c.1818-6T>C	AVIL	Single nucleotide variant (intron variant)	AVIL-related condition	GLikely benign
Select item 2591583	NM_006576.4(AVIL):c.1801T>C (p.Tyr601His)	AVIL (Y601H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363831	NM_006576.4(AVIL):c.1730G>A (p.Gly577Asp)	AVIL (G577D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992262	NM_006576.4(AVIL):c.1729G>A (p.Gly577Ser)	AVIL (G577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250126	NM_006576.4(AVIL):c.1711G>A (p.Ala571Thr)	AVIL (A571T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748523	NM_006576.4(AVIL):c.1710G>C (p.Leu570=)	AVIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526587	NM_006576.4(AVIL):c.1705G>C (p.Glu569Gln)	AVIL (E569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376834	NM_006576.4(AVIL):c.1682G>T (p.Gly561Val)	AVIL (G561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132389	NM_006576.4(AVIL):c.1621G>T (p.Asp541Tyr)	AVIL (D541Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132388	NM_006576.4(AVIL):c.1621G>C (p.Asp541His)	AVIL (D541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283043	NM_006576.4(AVIL):c.1519G>A (p.Glu507Lys)	AVIL (E507K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209623	NM_006576.4(AVIL):c.1502C>T (p.Ser501Phe)	AVIL (S501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784246	NM_006576.4(AVIL):c.1476G>A (p.Lys492=)	AVIL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684649	NM_006576.4(AVIL):c.1337G>A (p.Arg446His)	AVIL (R446H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 2487856	NM_006576.4(AVIL):c.1321T>C (p.Tyr441His)	AVIL (Y441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032549	NM_006576.4(AVIL):c.1302G>A (p.Gly434=)	AVIL	Single nucleotide variant (synonymous variant)	AVIL-related condition	GLikely benign
Select item 3068057	NM_006576.4(AVIL):c.1285A>G (p.Thr429Ala)	AVIL (T429A)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2464190	NM_006576.4(AVIL):c.1282T>C (p.Tyr428His)	AVIL (Y428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684648	NM_006576.4(AVIL):c.1273C>A (p.Leu425Met)	AVIL (L425M)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 3041006	NM_006576.4(AVIL):c.1239A>G (p.Gln413=)	AVIL	Single nucleotide variant (synonymous variant)	AVIL-related condition	GLikely benign
Select item 2372671	NM_006576.4(AVIL):c.1222G>A (p.Val408Ile)	AVIL (V408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691303	NM_006576.4(AVIL):c.1204A>G (p.Ile402Val)	AVIL (I402V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 1275257	NM_006576.4(AVIL):c.1194+202C>T	AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132386	NM_006576.4(AVIL):c.1130T>C (p.Leu377Pro)	AVIL (L377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132385	NM_006576.4(AVIL):c.1121T>A (p.Val374Glu)	AVIL (V374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364101	NM_006576.4(AVIL):c.1115T>C (p.Phe372Ser)	AVIL (F372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350949	NM_006576.4(AVIL):c.1082T>C (p.Ile361Thr)	AVIL (I361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276551	NM_006576.4(AVIL):c.1073C>T (p.Thr358Met)	AVIL (T358M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307054	NM_006576.4(AVIL):c.1064T>G (p.Leu355Arg)	AVIL (L355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132384	NM_006576.4(AVIL):c.1049A>G (p.Asp350Gly)	AVIL (D350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132383	NM_006576.4(AVIL):c.1013T>A (p.Met338Lys)	AVIL (M338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132404	NM_006576.4(AVIL):c.994G>A (p.Asp332Asn)	AVIL (D332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372965	NM_006576.4(AVIL):c.988G>A (p.Val330Ile)	AVIL (V330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722301	NM_006576.4(AVIL):c.964C>T (p.Pro322Ser)	AVIL (P322S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604478	NM_006576.4(AVIL):c.946A>T (p.Ile316Phe)	AVIL (I316F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253420	NM_006576.4(AVIL):c.940-88G>T	AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183396	NM_006576.4(AVIL):c.939+116T>C	AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265815	NM_006576.4(AVIL):c.939+26G>A	AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278069	NM_006576.4(AVIL):c.939+3A>T	AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056012	NM_006576.4(AVIL):c.895G>A (p.Gly299Arg)	AVIL (G299R)	Single nucleotide variant (missense variant)	AVIL-related condition	GLikely benign
Select item 3132400	NM_006576.4(AVIL):c.874A>C (p.Ile292Leu)	AVIL (I292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262605	NM_006576.4(AVIL):c.844T>G (p.Cys282Gly)	AVIL (C282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439447	NM_006576.4(AVIL):c.812dup (p.Leu272fs)	AVIL (L272fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2515403	NM_006576.4(AVIL):c.749T>C (p.Ile250Thr)	AVIL (I250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212236	NM_006576.4(AVIL):c.748A>G (p.Ile250Val)	AVIL (I250V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3132399	NM_006576.4(AVIL):c.734A>G (p.Lys245Arg)	AVIL (K245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132398	NM_006576.4(AVIL):c.647G>A (p.Ser216Asn)	AVIL (S216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213120	NM_006576.4(AVIL):c.625G>A (p.Glu209Lys)	AVIL (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192376	NM_006576.4(AVIL):c.610A>G (p.Lys204Glu)	AVIL (K204E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3067548	NM_006576.4(AVIL):c.609T>C (p.Ala203=)	AVIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810257	NM_006576.4(AVIL):c.595C>T (p.Arg199Ter)	AVIL (R199*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2361180	NM_006576.4(AVIL):c.584G>A (p.Arg195Gln)	AVIL (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291913	NM_006576.4(AVIL):c.559-97dup	AVIL	Duplication (intron variant)	not provided	GBenign
Select item 3132397	NM_006576.4(AVIL):c.553C>G (p.Leu185Val)	AVIL (L185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401035	NM_006576.4(AVIL):c.484G>A (p.Val162Ile)	AVIL (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047028	NM_006576.4(AVIL):c.444C>T (p.Thr148=)	AVIL	Single nucleotide variant (synonymous variant)	AVIL-related condition	GLikely benign
Select item 1691301	NM_006576.4(AVIL):c.431A>T (p.Asn144Ile)	AVIL (N144I)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 684650	NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)	AVIL (R135Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GLikely pathogenic
Select item 2590655	NM_006576.4(AVIL):c.397G>A (p.Val133Met)	AVIL (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344112	NM_006576.4(AVIL):c.358G>A (p.Ala120Thr)	AVIL (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615834	NM_006576.4(AVIL):c.349G>C (p.Gly117Arg)	AVIL (G117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132396	NM_006576.4(AVIL):c.334A>G (p.Ile112Val)	AVIL (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353801	NM_006576.4(AVIL):c.268C>T (p.Pro90Ser)	AVIL (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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