28887[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 310217	NM_014319.5(LEMD3):c.-6G>A	LEMD3	Single nucleotide variant (5 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 1810761	GRCh38/hg38 12q14.3(chr12:65192310-65195529)x4	LEMD3, LOC124629392 +3 more	Copy number gain	Orofacial cleft 3	Gassociation
Select item 2696960	NM_014319.5(LEMD3):c.2T>C (p.Met1Thr)	LEMD3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1488365	NM_014319.5(LEMD3):c.3GGC[4] (p.Ala6dup)	LEMD3	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2784731	NM_014319.5(LEMD3):c.6G>A (p.Ala2=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992863	NM_014319.5(LEMD3):c.8C>T (p.Ala3Val)	LEMD3 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896818	NM_014319.5(LEMD3):c.9G>A (p.Ala3=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896230	NM_014319.5(LEMD3):c.11C>G (p.Ala4Gly)	LEMD3 (A4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417369	NM_014319.5(LEMD3):c.13G>C (p.Ala5Pro)	LEMD3 (A5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284851	NM_014319.5(LEMD3):c.13G>A (p.Ala5Thr)	LEMD3 (A5T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183149	NM_014319.5(LEMD3):c.15A>G (p.Ala5=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126708	NM_014319.5(LEMD3):c.15A>C (p.Ala5=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176503	NM_014319.5(LEMD3):c.16G>A (p.Ala6Thr)	LEMD3 (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872282	NM_014319.5(LEMD3):c.17C>T (p.Ala6Val)	LEMD3 (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483959	NM_014319.5(LEMD3):c.20C>T (p.Ser7Leu)	LEMD3 (S7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717195	NM_014319.5(LEMD3):c.22G>A (p.Ala8Thr)	LEMD3 (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469084	NM_014319.5(LEMD3):c.26C>T (p.Pro9Leu)	LEMD3 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632200	NM_014319.5(LEMD3):c.28C>T (p.Gln10Ter)	LEMD3 (Q10*)	Single nucleotide variant (nonsense)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 1419379	NM_014319.5(LEMD3):c.29A>C (p.Gln10Pro)	LEMD3 (Q10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883410	NM_014319.5(LEMD3):c.29A>T (p.Gln10Leu)	LEMD3 (Q10L)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 733124	NM_014319.5(LEMD3):c.39G>A (p.Ser13=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1632689	NM_014319.5(LEMD3):c.45G>A (p.Glu15=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004584	NM_014319.5(LEMD3):c.49C>T (p.Leu17Phe)	LEMD3 (L17F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2905996	NM_014319.5(LEMD3):c.54C>G (p.Phe18Leu)	LEMD3 (F18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060044	NM_014319.5(LEMD3):c.56C>T (p.Ser19Phe)	LEMD3 (S19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438394	NM_014319.5(LEMD3):c.64_65delinsGC (p.Arg22Ala)	LEMD3 (R22A)	Indel (missense variant)	not provided	GUncertain significance
Select item 1981732	NM_014319.5(LEMD3):c.67C>T (p.Arg23Cys)	LEMD3 (R23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161369	NM_014319.5(LEMD3):c.75C>G (p.Gly25=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597353	NM_014319.5(LEMD3):c.84C>T (p.Pro28=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310218	NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala)	LEMD3 (G29A)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +1 more	GUncertain significance
Select item 1347852	NM_014319.5(LEMD3):c.92T>A (p.Val31Glu)	LEMD3 (V31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714921	NM_014319.5(LEMD3):c.99G>C (p.Glu33Asp)	LEMD3 (E33D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597352	NM_014319.5(LEMD3):c.99G>A (p.Glu33=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960147	NM_014319.5(LEMD3):c.107G>A (p.Arg36His)	LEMD3 (R36H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010064	NM_014319.5(LEMD3):c.110C>G (p.Pro37Arg)	LEMD3 (P37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835547	NM_014319.5(LEMD3):c.117C>T (p.Tyr39=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836009	NM_014319.5(LEMD3):c.126G>A (p.Lys42=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118345	NM_014319.5(LEMD3):c.140G>C (p.Arg47Pro)	LEMD3 (R47P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3015910	NM_014319.5(LEMD3):c.162C>T (p.His54=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426776	NM_014319.5(LEMD3):c.163C>G (p.Arg55Gly)	LEMD3 (R55G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3022365	NM_014319.5(LEMD3):c.165G>C (p.Arg55=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958058	NM_014319.5(LEMD3):c.169G>T (p.Gly57Trp)	LEMD3 (G57W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009520	NM_014319.5(LEMD3):c.170G>C (p.Gly57Ala)	LEMD3 (G57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831067	NM_014319.5(LEMD3):c.172G>C (p.Gly58Arg)	LEMD3 (G58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929934	NM_014319.5(LEMD3):c.173G>C (p.Gly58Ala)	LEMD3 (G58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498189	NM_014319.5(LEMD3):c.173G>A (p.Gly58Asp)	LEMD3 (G58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109446	NM_014319.5(LEMD3):c.176G>A (p.Arg59His)	LEMD3 (R59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182934	NM_014319.5(LEMD3):c.178G>A (p.Gly60Ser)	LEMD3 (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775962	NM_014319.5(LEMD3):c.179G>T (p.Gly60Val)	LEMD3 (G60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959713	NM_014319.5(LEMD3):c.180C>T (p.Gly60=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887881	NM_014319.5(LEMD3):c.197G>A (p.Ser66Asn)	LEMD3 (S66N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820836	NM_014319.5(LEMD3):c.201T>C (p.Asn67=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957979	NM_014319.5(LEMD3):c.204_206del (p.Asn70del)	LEMD3 (N70del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1717290	NM_014319.5(LEMD3):c.203A>G (p.Asn68Ser)	LEMD3 (N68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071238	NM_014319.5(LEMD3):c.205A>G (p.Asn69Asp)	LEMD3 (N69D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354890	NM_014319.5(LEMD3):c.206A>G (p.Asn69Ser)	LEMD3 (N69S)	Single nucleotide variant (missense variant)	LEMD3-related disorder +1 more	GUncertain significance
Select item 1354542	NM_014319.5(LEMD3):c.216_254dup (p.Thr75_Ala87dup)	LEMD3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3234616	NM_014319.5(LEMD3):c.212C>T (p.Thr71Met)	LEMD3 (T71M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969406	NM_014319.5(LEMD3):c.213G>A (p.Thr71=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966728	NM_014319.5(LEMD3):c.220G>A (p.Ala74Thr)	LEMD3 (A74T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721398	NM_014319.5(LEMD3):c.223A>C (p.Thr75Pro)	LEMD3 (T75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548757	NM_014319.5(LEMD3):c.225G>C (p.Thr75=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831195	NM_014319.5(LEMD3):c.226G>A (p.Val76Ile)	LEMD3 (V76I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407055	NM_014319.5(LEMD3):c.229G>A (p.Ala77Thr)	LEMD3 (A77T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128078	NM_014319.5(LEMD3):c.230C>T (p.Ala77Val)	LEMD3 (A77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594166	NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)	LEMD3	Deletion (inframe_deletion)	Dermatofibrosis lenticularis disseminata +2 more	GLikely benign
Select item 2792212	NM_014319.5(LEMD3):c.233C>A (p.Ala78Asp)	LEMD3 (A78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626025	NM_014319.5(LEMD3):c.237G>A (p.Ala79=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994053	NM_014319.5(LEMD3):c.238G>A (p.Gly80Arg)	LEMD3 (G80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807852	NM_014319.5(LEMD3):c.239G>C (p.Gly80Ala)	LEMD3 (G80A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378544	NM_014319.5(LEMD3):c.239G>A (p.Gly80Glu)	LEMD3 (G80E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963939	NM_014319.5(LEMD3):c.243_248dup (p.Ala87_Gly88insAlaAla)	LEMD3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1026852	NM_014319.5(LEMD3):c.241C>G (p.Pro81Ala)	LEMD3 (P81A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1392335	NM_014319.5(LEMD3):c.242C>T (p.Pro81Leu)	LEMD3 (P81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914444	NM_014319.5(LEMD3):c.246GGC[5] (p.Ala87_Gly88insAla)	LEMD3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1448807	NM_014319.5(LEMD3):c.253G>C (p.Ala85Pro)	LEMD3 (A85P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3118348	NM_014319.5(LEMD3):c.259G>A (p.Ala87Thr)	LEMD3 (A87T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2996390	NM_014319.5(LEMD3):c.263G>T (p.Gly88Val)	LEMD3 (G88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722089	NM_014319.5(LEMD3):c.263G>A (p.Gly88Glu)	LEMD3 (G88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014013	NM_014319.5(LEMD3):c.266T>C (p.Met89Thr)	LEMD3 (M89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399037	NM_014319.5(LEMD3):c.268G>C (p.Gly90Arg)	LEMD3 (G90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906911	NM_014319.5(LEMD3):c.270G>T (p.Gly90=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837942	NM_014319.5(LEMD3):c.277C>T (p.Pro93Ser)	LEMD3, LOC130008224 (P93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233477	NM_014319.5(LEMD3):c.278C>G (p.Pro93Arg)	LEMD3, LOC130008224 (P93R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289423	NM_014319.5(LEMD3):c.282C>G (p.Val94=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3290459	NM_014319.5(LEMD3):c.283T>G (p.Ser95Ala)	LEMD3, LOC130008224 (S95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1910614	NM_014319.5(LEMD3):c.285G>A (p.Ser95=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897122	NM_014319.5(LEMD3):c.291C>T (p.Asp97=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 284627	NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe)	LEMD3, LOC130008224 (L98F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2303651	NM_014319.5(LEMD3):c.299A>G (p.Tyr100Cys)	LEMD3, LOC130008224 (Y100C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881055	NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe)	LEMD3, LOC130008224 (Y100F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2853889	NM_014319.5(LEMD3):c.300C>T (p.Tyr100=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812643	NM_014319.5(LEMD3):c.304C>G (p.Arg102Gly)	LEMD3, LOC130008224 (R102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974713	NM_014319.5(LEMD3):c.305G>A (p.Arg102Gln)	LEMD3, LOC130008224 (R102Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642276	NM_014319.5(LEMD3):c.306G>A (p.Arg102=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414403	NM_014319.5(LEMD3):c.311del (p.Pro104fs)	LEMD3, LOC130008224 (P104fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2628463	NM_014319.5(LEMD3):c.311C>T (p.Pro104Leu)	LEMD3, LOC130008224 (P104L)	Single nucleotide variant (missense variant)	LEMD3-related disorder	GUncertain significance

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