LEMD2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 1242353	NM_181336.4(LEMD2):c.*80C>G	LEMD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1289212	NM_181336.4(LEMD2):c.*23C>T	LEMD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2486416	NM_181336.4(LEMD2):c.1502C>T (p.Ser501Leu)	LEMD2 (S501L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917488	NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)	LEMD2 (S177F +2 more)	Single nucleotide variant (missense variant)	Short stature +18 more	GLikely pathogenic
Select item 2308600	NM_181336.4(LEMD2):c.1430C>T (p.Thr477Met)	LEMD2 (T344M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2329021	NM_181336.4(LEMD2):c.1366C>T (p.Arg456Cys)	LEMD2 (R456C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1606359	NM_181336.4(LEMD2):c.1362-12C>T	LEMD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279226	NM_181336.4(LEMD2):c.1362-37G>A	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294878	NM_181336.4(LEMD2):c.1362-152_1362-150del	LEMD2	Microsatellite (intron variant)	not provided	GBenign
Select item 1252205	NM_181336.4(LEMD2):c.1361+20G>A	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1537072	NM_181336.4(LEMD2):c.1361+9C>T	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1545075	NM_181336.4(LEMD2):c.1278C>T (p.Tyr426=)	LEMD2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1237683	NM_181336.4(LEMD2):c.1258+35C>T	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263137	NM_181336.4(LEMD2):c.1258+33G>C	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069437	NM_181336.4(LEMD2):c.1258+4C>T	LEMD2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2696933	NM_181336.4(LEMD2):c.1214A>G (p.Glu405Gly)	LEMD2 (E103G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350653	NM_181336.4(LEMD2):c.1199G>A (p.Arg400Gln)	LEMD2 (R400Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2894115	NM_181336.4(LEMD2):c.1191A>G (p.Leu397=)	LEMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1181735	NM_181336.4(LEMD2):c.1157-55G>A	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1968091	NM_181336.4(LEMD2):c.1084C>T (p.Arg362Cys)	LEMD2 (R60C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397553	NM_181336.4(LEMD2):c.1079A>G (p.His360Arg)	LEMD2 (H360R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3290454	NM_181336.4(LEMD2):c.1055A>G (p.Lys352Arg)	LEMD2 (K219R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045864	NM_181336.4(LEMD2):c.1032T>A (p.Ser344=)	LEMD2	Single nucleotide variant (synonymous variant)	LEMD2-related disorder	GLikely benign
Select item 3118338	NM_181336.4(LEMD2):c.1000G>A (p.Val334Met)	LEMD2 (V201M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2042860	NM_181336.4(LEMD2):c.995A>G (p.Lys332Arg)	LEMD2 (K332R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2242920	NM_181336.4(LEMD2):c.960T>G (p.Phe320Leu)	LEMD2 (F18L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264368	NM_181336.4(LEMD2):c.930+23A>C	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053297	NM_181336.4(LEMD2):c.917A>G (p.Gln306Arg)	LEMD2 (Q306R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1373214	NM_181336.4(LEMD2):c.889A>G (p.Ser297Gly)	LEMD2 (S164G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2217937	NM_181336.4(LEMD2):c.881A>G (p.Asn294Ser)	LEMD2 (N161S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1879659	NM_181336.4(LEMD2):c.864G>A (p.Glu288=)	LEMD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 716351	NM_181336.4(LEMD2):c.854-3T>C	LEMD2	Single nucleotide variant (intron variant)	LEMD2-related disorder +1 more	GBenign/Likely benign
Select item 1294825	NM_181336.4(LEMD2):c.854-15dup	LEMD2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1266500	NM_181336.4(LEMD2):c.853+184C>T	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265034	NM_181336.4(LEMD2):c.853+116T>C	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3118342	NM_181336.4(LEMD2):c.830A>G (p.Tyr277Cys)	LEMD2 (Y277C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469413	NM_181336.4(LEMD2):c.807G>T (p.Leu269Phe)	LEMD2 (L269F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1242342	NM_181336.4(LEMD2):c.777+210A>G	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237931	NM_181336.4(LEMD2):c.777+115T>C	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177780	NM_181336.4(LEMD2):c.737-41C>T	LEMD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225749	NM_181336.4(LEMD2):c.736+132G>A	LEMD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1472516	NM_181336.4(LEMD2):c.734A>G (p.Asn245Ser)	LEMD2 (N245S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 791143	NM_181336.4(LEMD2):c.669C>G (p.Leu223=)	LEMD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2781191	NM_181336.4(LEMD2):c.665T>C (p.Leu222Pro)	LEMD2 (L222P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2300164	NM_181336.4(LEMD2):c.602A>C (p.Glu201Ala)	LEMD2 (E201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290451	NM_181336.4(LEMD2):c.584C>G (p.Ala195Gly)	LEMD2 (A195G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253540	NM_181336.4(LEMD2):c.533G>A (p.Gly178Asp)	LEMD2 (G178D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219857	NM_181336.4(LEMD2):c.526C>T (p.Leu176Phe)	LEMD2 (L176F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2849395	NM_181336.4(LEMD2):c.521C>T (p.Ser174Phe)	LEMD2 (S174F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656503	NM_181336.4(LEMD2):c.508G>A (p.Ala170Thr)	LEMD2 (A170T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2364300	NM_181336.4(LEMD2):c.506C>T (p.Pro169Leu)	LEMD2 (P169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716352	NM_181336.4(LEMD2):c.462C>T (p.Gly154=)	LEMD2	Single nucleotide variant (synonymous variant +1 more)	LEMD2-related disorder +1 more	GBenign
Select item 3118340	NM_181336.4(LEMD2):c.421G>A (p.Glu141Lys)	LEMD2 (E141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1286638	NM_181336.4(LEMD2):c.362C>T (p.Ala121Val)	LEMD2 (A121V)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2743393	NM_181336.4(LEMD2):c.357C>T (p.Gly119=)	LEMD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2393588	NM_181336.4(LEMD2):c.337T>C (p.Ser113Pro)	LEMD2 (S113P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1685587	NM_181336.4(LEMD2):c.335C>T (p.Ala112Val)	LEMD2 (A112V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2600157	NM_181336.4(LEMD2):c.244T>G (p.Ser82Ala)	LEMD2, LOC129996186 (S82A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290450	NM_181336.4(LEMD2):c.239C>T (p.Ala80Val)	LEMD2, LOC129996186 (A80V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290452	NM_181336.4(LEMD2):c.200G>C (p.Arg67Pro)	LEMD2, LOC129996186 (R67P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290453	NM_181336.4(LEMD2):c.188G>T (p.Arg63Leu)	LEMD2, LOC129996186 (R63L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3057738	NM_181336.4(LEMD2):c.147G>A (p.Arg49=)	LEMD2, LOC129996186	Single nucleotide variant (5 prime UTR variant +1 more)	LEMD2-related disorder	GLikely benign
Select item 3118339	NM_181336.4(LEMD2):c.139G>A (p.Glu47Lys)	LEMD2, LOC129996186 (E47K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2065191	NM_181336.4(LEMD2):c.90C>G (p.Val30=)	LEMD2, LOC129996186	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2605454	NM_181336.4(LEMD2):c.85G>C (p.Asp29His)	LEMD2, LOC129996186 (D29H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2715032	NM_181336.4(LEMD2):c.77C>G (p.Thr26Ser)	LEMD2, LOC129996186 (T26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 776125	NM_181336.4(LEMD2):c.77C>A (p.Thr26Asn)	LEMD2, LOC129996186 (T26N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2286529	NM_181336.4(LEMD2):c.65C>T (p.Pro22Leu)	LEMD2, LOC129996186 (P22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388158	NM_181336.4(LEMD2):c.54C>A (p.Phe18Leu)	LEMD2, LOC129996186 (F18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 235192	NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)	LEMD2, LOC129996186 (L13R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 46 juvenile-onset	GPathogenic
Select item 1065592	NM_181336.4(LEMD2):c.1A>G (p.Met1Val)	LEMD2, LOC129996186 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental cataract	GUncertain significance
Select item 1222342	NC_000006.12:g.33789237G>T	LEMD2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1220870	NC_000006.12:g.33789270G>C	LEMD2, LOC129996187	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 81