ClinVar for MedGen (Select 120545) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393251	NM_014319.5(LEMD3):c.2668A>G (p.Lys890Glu)	LEMD3 (K889E +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 1699129	NM_014319.5(LEMD3):c.906del (p.Gly303fs)	LEMD3 (G303fs)	Deletion (frameshift variant)	Dermatofibrosis lenticularis disseminata	GPathogenic
Select item 1687718	NM_014319.5(LEMD3):c.2024-2A>G	LEMD3	Single nucleotide variant (splice acceptor variant)	Dermatofibrosis lenticularis disseminata	GPathogenic
Select item 1686636	NM_014319.5(LEMD3):c.1994A>G (p.Gln665Arg)	LEMD3 (Q664R +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GLikely pathogenic
Select item 1334640	NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs)	LEMD3 (T602fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324660	NM_014319.5(LEMD3):c.1594_1597del (p.Tyr532fs)	LEMD3 (Y531fs +1 more)	Microsatellite (frameshift variant)	Dermatofibrosis lenticularis disseminata	GLikely pathogenic
Select item 1040695	NM_014319.5(LEMD3):c.2263G>A (p.Asp755Asn)	LEMD3 (D754N +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +2 more	GUncertain significance
Select item 931797	NM_014319.5(LEMD3):c.1700del (p.Asp566_Leu567insTer)	LEMD3	Deletion (nonsense)	Dermatofibrosis lenticularis disseminata	GPathogenic
Select item 883505	NM_014319.5(LEMD3):c.*991A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 883504	NM_014319.5(LEMD3):c.*899T>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 883457	NM_014319.5(LEMD3):c.1556T>G (p.Ile519Arg)	LEMD3 (I519R +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 883456	NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala)	LEMD3 (T465A)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GLikely benign
Select item 883455	NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn)	LEMD3 (T435N)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +1 more	GLikely benign
Select item 883454	NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe)	LEMD3 (S402F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 882721	NM_014319.5(LEMD3):c.*388G>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 882720	NM_014319.5(LEMD3):c.*388G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 882719	NM_014319.5(LEMD3):c.*236G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 882678	NM_014319.5(LEMD3):c.1108C>A (p.Pro370Thr)	LEMD3, LOC130008225 (P370T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882677	NM_014319.5(LEMD3):c.1101C>T (p.Leu367=)	LEMD3, LOC130008225	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882676	NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe)	LOC130008225, LEMD3 (L367F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 882675	NM_014319.5(LEMD3):c.1058C>G (p.Pro353Arg)	LEMD3 (P353R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881607	NM_014319.5(LEMD3):c.*1925G>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881571	NM_014319.5(LEMD3):c.*5A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881570	NM_014319.5(LEMD3):c.2648C>A (p.Thr883Asn)	LEMD3 (T882N +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881569	NM_014319.5(LEMD3):c.2586A>G (p.Thr862=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881568	NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys)	LEMD3 (R699C +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +1 more	GConflicting classifications of pathogenicity
Select item 881515	NM_014319.5(LEMD3):c.501C>T (p.Tyr167=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881140	NM_014319.5(LEMD3):c.*1455T>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881139	NM_014319.5(LEMD3):c.*1439G>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881138	NM_014319.5(LEMD3):c.*1394C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 881097	NM_014319.5(LEMD3):c.1631A>C (p.Asp544Ala)	LEMD3 (D544A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881096	NM_014319.5(LEMD3):c.1586A>G (p.Asn529Ser)	LEMD3 (N528S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 775098	NM_014319.5(LEMD3):c.1350A>G (p.Glu450=)	LEMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 714180	NM_014319.5(LEMD3):c.2305+4T>C	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
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 623148	NM_014319.5(LEMD3):c.2371_2372del (p.Met791fs)	LEMD3 (M790fs +1 more)	Microsatellite (frameshift variant)	Dermatofibrosis lenticularis disseminata	GLikely pathogenic
Select item 620578	NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)	LEMD3 (E601* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 597731	NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)	LEMD3 (P444A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 594166	NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)	LEMD3	Deletion (inframe_deletion)	not specified +2 more	GLikely benign
Select item 592089	NM_014319.5(LEMD3):c.2094T>G (p.His698Gln)	LEMD3 (H698Q +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 501660	NM_014319.5(LEMD3):c.2331A>C (p.Ser777=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +2 more	GLikely benign
Select item 310264	NM_014319.5(LEMD3):c.*1951C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310263	NM_014319.5(LEMD3):c.*1901G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310262	NM_014319.5(LEMD3):c.*1880C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310261	NM_014319.5(LEMD3):c.*1759G>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310260	NM_014319.5(LEMD3):c.*1635G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310259	NM_014319.5(LEMD3):c.*1481C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310258	NM_014319.5(LEMD3):c.*1389G>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310257	NM_014319.5(LEMD3):c.*1305T>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310256	NM_014319.5(LEMD3):c.*1295G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310255	NM_014319.5(LEMD3):c.*1156G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310254	NM_014319.5(LEMD3):c.*1141A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310253	NM_014319.5(LEMD3):c.*915G>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310252	NM_014319.5(LEMD3):c.*902G>A	LEMD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310251	NM_014319.5(LEMD3):c.*895T>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310250	NM_014319.5(LEMD3):c.*884A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310249	NM_014319.5(LEMD3):c.*790G>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310248	NM_014319.5(LEMD3):c.*688T>C	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310247	NM_014319.5(LEMD3):c.*655C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310246	NM_014319.5(LEMD3):c.*576A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310245	NM_014319.5(LEMD3):c.*476C>T	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310244	NM_014319.5(LEMD3):c.*225A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GBenign
Select item 310243	NM_014319.5(LEMD3):c.*146A>G	LEMD3	Single nucleotide variant (3 prime UTR variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310242	NM_014319.5(LEMD3):c.2658G>A (p.Lys886=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310241	NM_014319.5(LEMD3):c.2573-13T>G	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GConflicting classifications of pathogenicity
Select item 310240	NM_014319.5(LEMD3):c.1813A>G (p.Ile605Val)	LEMD3 (I605V +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310239	NM_014319.5(LEMD3):c.1720A>G (p.Ile574Val)	LEMD3 (I574V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310238	NM_014319.5(LEMD3):c.1705C>T (p.Pro569Ser)	LEMD3 (P569S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310237	NM_014319.5(LEMD3):c.1695+8A>G	LEMD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 310236	NM_014319.5(LEMD3):c.1628-11A>C	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310235	NM_014319.5(LEMD3):c.1627+12_1627+14del	LEMD3	Deletion (intron variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310234	NM_014319.5(LEMD3):c.1523-12C>T	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310233	NM_014319.5(LEMD3):c.1154C>G (p.Ser385Cys)	LEMD3 (S385C)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310232	NM_014319.5(LEMD3):c.1075G>A (p.Val359Ile)	LEMD3, LOC130008225 (V359I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 310231	NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser)	LEMD3 (P355S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 310230	NM_014319.5(LEMD3):c.1027G>A (p.Gly343Arg)	LEMD3 (G343R)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata	GUncertain significance
Select item 310229	NM_014319.5(LEMD3):c.948C>T (p.Leu316=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310228	NM_014319.5(LEMD3):c.882C>T (p.Leu294=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +1 more	GConflicting classifications of pathogenicity
Select item 310227	NM_014319.5(LEMD3):c.750C>T (p.Val250=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata	GLikely benign
Select item 310226	NM_014319.5(LEMD3):c.673G>C (p.Glu225Gln)	LEMD3 (E225Q)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +1 more	GUncertain significance
Select item 310225	NM_014319.5(LEMD3):c.640G>T (p.Asp214Tyr)	LEMD3 (D214Y)	Single nucleotide variant (missense variant)	Dermatofibrosis lenticularis disseminata +1 more	GUncertain significance
Select item 310224	NM_014319.5(LEMD3):c.618G>A (p.Glu206=)	LEMD3	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +1 more	GConflicting classifications of pathogenicity
Select item 310223	NM_014319.5(LEMD3):c.380C>T (p.Ala127Val)	LOC130008224, LEMD3 (A127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 310222	NM_014319.5(LEMD3):c.378C>T (p.Ser126=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 310221	NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly)	LEMD3, LOC130008224 (S117G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310220	NM_014319.5(LEMD3):c.345A>G (p.Pro115=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310219	NM_014319.5(LEMD3):c.336C>T (p.Ala112=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	Dermatofibrosis lenticularis disseminata +2 more	GBenign
Select item 310218	NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala)	LEMD3 (G29A)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 287374	NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys)	LEMD3 (G303C)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 284212	NM_014319.5(LEMD3):c.1560+10C>T	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +2 more	GBenign
Select item 2758	NM_014319.5(LEMD3):c.2564G>A (p.Trp855Ter)	LEMD3 (W855* +1 more)	Single nucleotide variant (nonsense)	Dermatofibrosis lenticularis disseminata	GPathogenic
Select item 2757	NM_014319.5(LEMD3):c.2154dup (p.Ala719fs)	LEMD3 (A718fs +1 more)	Duplication (frameshift variant)	Dermatofibrosis lenticularis disseminata +1 more	GPathogenic
Select item 2754	NM_014319.5(LEMD3):c.1035dup (p.Cys346fs)	LEMD3 (C346fs)	Duplication (frameshift variant)	Dermatofibrosis lenticularis disseminata	GPathogenic
Select item 2753	NM_014319.5(LEMD3):c.1033_1035delinsC (p.Gly345fs)	LEMD3 (G345fs)	Indel (frameshift variant)	Dermatofibrosis lenticularis disseminata	GPathogenic

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Items: 99