146206[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2879138	NM_001013838.3(CARMIL2):c.6C>T (p.Ala2=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244748	NM_001013838.3(CARMIL2):c.10A>C (p.Thr4Pro)	CARMIL2 (T4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1647926	NM_001013838.3(CARMIL2):c.15C>T (p.Pro5=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532619	NM_001013838.3(CARMIL2):c.15C>G (p.Pro5=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901141	NM_001013838.3(CARMIL2):c.16G>A (p.Asp6Asn)	CARMIL2 (D6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777780	NM_001013838.3(CARMIL2):c.18C>T (p.Asp6=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958671	NM_001013838.3(CARMIL2):c.18C>A (p.Asp6Glu)	CARMIL2 (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398343	NM_001013838.3(CARMIL2):c.28T>G (p.Cys10Gly)	CARMIL2 (C10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079064	NM_001013838.3(CARMIL2):c.34C>T (p.Leu12Phe)	CARMIL2 (L12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675628	NM_001013838.3(CARMIL2):c.35T>C (p.Leu12Pro)	CARMIL2 (L12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388986	NM_001013838.3(CARMIL2):c.37C>T (p.Arg13Ter)	CARMIL2 (R13*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1642555	NM_001013838.3(CARMIL2):c.40+12C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704298	NM_001013838.3(CARMIL2):c.40+13C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982098	NM_001013838.3(CARMIL2):c.40+17C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688465	NM_001013838.3(CARMIL2):c.41-95C>T	CARMIL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1470895	NM_001013838.3(CARMIL2):c.41-5C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1396051	NM_001013838.3(CARMIL2):c.42C>T (p.Gly14=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2712585	NM_001013838.3(CARMIL2):c.54G>A (p.Arg18=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694800	NM_001013838.3(CARMIL2):c.93C>T (p.Thr31=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133866	NM_001013838.3(CARMIL2):c.97C>T (p.Leu33=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941826	NM_001013838.3(CARMIL2):c.103G>C (p.Gly35Arg)	CARMIL2 (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570094	NM_001013838.3(CARMIL2):c.105G>A (p.Gly35=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018222	NM_001013838.3(CARMIL2):c.108G>C (p.Glu36Asp)	CARMIL2 (E36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913392	NM_001013838.3(CARMIL2):c.115G>A (p.Val39Met)	CARMIL2 (V39M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185220	NM_001013838.3(CARMIL2):c.122A>G (p.Asn41Ser)	CARMIL2 (N41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185285	NM_001013838.3(CARMIL2):c.125A>G (p.His42Arg)	CARMIL2 (H42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442324	NM_001013838.3(CARMIL2):c.130C>G (p.Leu44Val)	CARMIL2 (L44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785177	NM_001013838.3(CARMIL2):c.132+9C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780934	NM_001013838.3(CARMIL2):c.133-16G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812394	NM_001013838.3(CARMIL2):c.133-12G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532970	NM_001013838.3(CARMIL2):c.133-9T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1437158	NM_001013838.3(CARMIL2):c.143G>A (p.Arg48Gln)	CARMIL2 (R48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 565285	NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	CARMIL2 (R50T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 1945222	NM_001013838.3(CARMIL2):c.151G>T (p.Ala51Ser)	CARMIL2 (A51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1610535	NM_001013838.3(CARMIL2):c.159G>A (p.Leu53=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462101	NM_001013838.3(CARMIL2):c.163C>T (p.His55Tyr)	CARMIL2 (H55Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904809	NM_001013838.3(CARMIL2):c.165C>T (p.His55=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950980	NM_001013838.3(CARMIL2):c.167C>T (p.Thr56Ile)	CARMIL2 (T56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505210	NM_001013838.3(CARMIL2):c.179C>A (p.Pro60Gln)	CARMIL2 (P60Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653899	NM_001013838.3(CARMIL2):c.180G>A (p.Pro60=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003477	NM_001013838.3(CARMIL2):c.185G>T (p.Arg62Met)	CARMIL2 (R62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838771	NM_001013838.3(CARMIL2):c.186+7C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900005	NM_001013838.3(CARMIL2):c.186+9C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628253	NM_001013838.3(CARMIL2):c.187-42G>A	CARMIL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1905830	NM_001013838.3(CARMIL2):c.197C>T (p.Thr66Met)	CARMIL2 (T66M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000469	NM_001013838.3(CARMIL2):c.198G>T (p.Thr66=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1539695	NM_001013838.3(CARMIL2):c.198G>A (p.Thr66=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992501	NM_001013838.3(CARMIL2):c.214G>A (p.Val72Ile)	CARMIL2 (V72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072430	NM_001013838.3(CARMIL2):c.220G>A (p.Ala74Thr)	CARMIL2 (A74T)	Single nucleotide variant (missense variant)	CARMIL2-related condition +1 more	GUncertain significance
Select item 1063548	NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr)	CARMIL2 (A76T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GUncertain significance
Select item 1420200	NM_001013838.3(CARMIL2):c.227C>T (p.Ala76Val)	CARMIL2 (A76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898474	NM_001013838.3(CARMIL2):c.228G>A (p.Ala76=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801012	NM_001013838.3(CARMIL2):c.242C>T (p.Pro81Leu)	CARMIL2 (P81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035630	NM_001013838.3(CARMIL2):c.249+7C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964724	NM_001013838.3(CARMIL2):c.250-15G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1473391	NM_001013838.3(CARMIL2):c.250-2A>G	CARMIL2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1369390	NM_001013838.3(CARMIL2):c.250G>A (p.Val84Ile)	CARMIL2 (V84I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127058	NM_001013838.3(CARMIL2):c.262C>T (p.Leu88=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122669	NM_001013838.3(CARMIL2):c.266A>T (p.Glu89Val)	CARMIL2 (E89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413961	NM_001013838.3(CARMIL2):c.267G>A (p.Glu89=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596036	NM_001013838.3(CARMIL2):c.270C>T (p.Ser90=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370953	NM_001013838.3(CARMIL2):c.274C>T (p.Arg92Cys)	CARMIL2 (R92C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517819	NM_001013838.3(CARMIL2):c.275G>A (p.Arg92His)	CARMIL2 (R92H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436266	NM_001013838.3(CARMIL2):c.283G>C (p.Val95Leu)	CARMIL2 (V95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009903	NM_001013838.3(CARMIL2):c.294T>C (p.Phe98=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637104	NM_001013838.3(CARMIL2):c.297T>C (p.Pro99=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363304	NM_001013838.3(CARMIL2):c.306C>T (p.Ala102=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902080	NM_001013838.3(CARMIL2):c.307G>A (p.Ala103Thr)	CARMIL2 (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439754	NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)	CARMIL2 (A108G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2193154	NM_001013838.3(CARMIL2):c.330C>T (p.His110=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470401	NM_001013838.3(CARMIL2):c.331G>A (p.Val111Met)	CARMIL2 (V111M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387358	NM_001013838.3(CARMIL2):c.334_337del (p.Ala112fs)	CARMIL2 (A112fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1419818	NM_001013838.3(CARMIL2):c.343A>T (p.Ile115Phe)	CARMIL2 (I115F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510207	NM_001013838.3(CARMIL2):c.347A>T (p.Lys116Met)	CARMIL2 (K116M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540633	NM_001013838.3(CARMIL2):c.351G>A (p.Lys117=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376189	NM_001013838.3(CARMIL2):c.352G>T (p.Val118Phe)	CARMIL2 (V118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078742	NM_001013838.3(CARMIL2):c.354C>T (p.Val118=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950188	NM_001013838.3(CARMIL2):c.355T>C (p.Phe119Leu)	CARMIL2 (F119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398655	NM_001013838.3(CARMIL2):c.359C>T (p.Pro120Leu)	CARMIL2 (P120L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469969	NM_001013838.3(CARMIL2):c.362G>C (p.Arg121Pro)	CARMIL2 (R121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356163	NM_001013838.3(CARMIL2):c.365C>T (p.Ser122Leu)	CARMIL2 (S122L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170603	NM_001013838.3(CARMIL2):c.366G>A (p.Ser122=)	CARMIL2	Single nucleotide variant (synonymous variant)	CARMIL2-related condition +1 more	GBenign/Likely benign
Select item 1523287	NM_001013838.3(CARMIL2):c.374+6G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919114	NM_001013838.3(CARMIL2):c.374+7C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1472984	NM_001013838.3(CARMIL2):c.374+12C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1630353	NM_001013838.3(CARMIL2):c.374+18C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674956	NM_001013838.3(CARMIL2):c.374+19G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004811	NM_001013838.3(CARMIL2):c.375-19C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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