Related gene-specific medical variations for Gene (Select 3909) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242788	NC_000018.9:g.(?_21453088)_(21458471_?)del	LAMA3	Deletion	not provided	GLikely pathogenic
Select item 3242786	NC_000018.9:g.(?_21512104)_(21513919_?)del	LAMA3	Deletion	not provided	GPathogenic
Select item 3239675	NM_198129.4(LAMA3):c.1273+26_1273+41del	LAMA3 (L434fs)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 3117479	NM_000227.6(LAMA3):c.59C>T (p.Ala20Val)	LAMA3, LOC126862707 (A20V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067902	NM_198129.4(LAMA3):c.9146G>A (p.Gly3049Glu)	LAMA3 (G1384E +3 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 2B, severe	GLikely benign
Select item 3065310	NM_198129.4(LAMA3):c.4281+2T>G	LAMA3	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 2B, severe	GLikely pathogenic
Select item 2996958	NM_198129.4(LAMA3):c.4998+1567T>C	LAMA3, LOC126862707	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957840	NM_198129.4(LAMA3):c.4998+1563C>T	LAMA3, LOC126862707	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913334	NM_198129.4(LAMA3):c.4998+1571T>G	LAMA3, LOC126862707	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891565	NM_198129.4(LAMA3):c.4998+1569A>G	LAMA3, LOC126862707	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882659	NM_000227.6(LAMA3):c.69G>A (p.Gly23=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871374	NM_000227.6(LAMA3):c.70C>T (p.Gln24Ter)	LAMA3, LOC126862707 (Q24*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2838145	NM_000227.6(LAMA3):c.129_130del (p.Gln45fs)	LAMA3, LOC126862707 (Q45fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2830296	NM_000227.6(LAMA3):c.165C>G (p.Pro55=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2753814	NM_000227.6(LAMA3):c.62_72dup (p.Cys25fs)	LAMA3, LOC126862707 (C25fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2701298	NM_000227.6(LAMA3):c.33C>T (p.Ser11=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2690632	NM_198129.4(LAMA3):c.6299del (p.Leu2100fs)	LAMA3 (L2044fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2664333	NM_000227.6(LAMA3):c.50T>A (p.Ile17Asn)	LAMA3, LOC126862707	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441682	NM_198129.4(LAMA3):c.6319-1G>A	LAMA3	Single nucleotide variant (splice acceptor variant)	Laryngo-onycho-cutaneous syndrome +2 more	GLikely pathogenic
Select item 2441089	NM_198129.4(LAMA3):c.5633del (p.Arg1878fs)	LAMA3 (R1878fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2201292	NM_000227.6(LAMA3):c.171+1G>A	LAMA3, LOC126862707	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2174128	NM_000227.6(LAMA3):c.130A>G (p.Ser44Gly)	LAMA3, LOC126862707 (S44G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2154347	NM_000227.6(LAMA3):c.81C>T (p.Gly27=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126267	NM_198129.4(LAMA3):c.4998+1563C>G	LAMA3, LOC126862707	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958581	NM_000227.6(LAMA3):c.139C>T (p.Gln47Ter)	LAMA3, LOC126862707 (Q47*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1937201	NM_000227.6(LAMA3):c.123C>G (p.Pro41=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895903	NM_000227.6(LAMA3):c.39A>G (p.Gly13=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1878281	NM_000227.6(LAMA3):c.69del (p.Gln24fs)	LAMA3, LOC126862707 (Q24fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1707484	NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)	LAMA3, LOC126862707 (W16*)	Single nucleotide variant (nonsense +1 more)	Laryngo-onycho-cutaneous syndrome	GPathogenic
Select item 1707483	NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)	LAMA3, LOC126862707 (Q57*)	Single nucleotide variant (nonsense +1 more)	Laryngo-onycho-cutaneous syndrome	GPathogenic
Select item 1699950	LAMA3, IVS35, +1, G-A	LAMA3	Single nucleotide variant	Epidermolysis bullosa, junctional 2A, intermediate +1 more	GPathogenic
Select item 1699949	LAMA3, ARG1331CYS	LAMA3	Variation	Epidermolysis bullosa, junctional 2A, intermediate	GPathogenic
Select item 1643453	NM_000227.6(LAMA3):c.9A>G (p.Pro3=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1341275	GRCh37/hg19 18q11.2(chr18:21258175-21343204)x1	LAMA3	Copy number loss	not provided	GUncertain significance
Select item 1323178	NM_198129.4(LAMA3):c.8087_8090delinsTGC (p.Asn2696fs)	LAMA3 (N1031fs +3 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1323177	NM_198129.4(LAMA3):c.5000_5003del (p.Gly1667fs)	LAMA3 (G1667fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1252054	NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)	LAMA3 (R1103* +3 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 2B, severe	GPathogenic
Select item 1161783	NM_000227.6(LAMA3):c.78G>C (p.Leu26=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1160784	NM_000227.6(LAMA3):c.84C>T (p.Tyr28=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1158140	NM_000227.6(LAMA3):c.54T>C (p.Phe18=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146097	NM_000227.6(LAMA3):c.144G>A (p.Ala48=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1142300	NM_198129.4(LAMA3):c.4998+1563C>A	LOC126862707, LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132196	NM_000227.6(LAMA3):c.24A>G (p.Ser8=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1125434	NM_000227.6(LAMA3):c.18G>A (p.Arg6=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112964	NM_000227.6(LAMA3):c.135A>G (p.Gln45=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112357	NM_000227.6(LAMA3):c.75T>C (p.Cys25=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1090105	NM_000227.6(LAMA3):c.19C>A (p.Arg7=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890253	NM_000227.6(LAMA3):c.71A>G (p.Gln24Arg)	LOC126862707, LAMA3 (Q24R)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 890252	NM_000227.6(LAMA3):c.19C>T (p.Arg7Trp)	LOC126862707, LAMA3 (R7W)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 890251	NM_198129.4(LAMA3):c.4998+1367G>A	LAMA3, LOC126862707	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely benign
Select item 851042	NM_000227.6(LAMA3):c.23C>A (p.Ser8Ter)	LAMA3, LOC126862707 (S8*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 799800	NM_000227.6(LAMA3):c.123C>T (p.Pro41=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742547	NM_000227.6(LAMA3):c.76C>A (p.Leu26Met)	LAMA3, LOC126862707 (L26M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 725994	NM_198129.4(LAMA3):c.1680A>G (p.Gly560=)	LAMA3, LOC130062292	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559534	NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)	LAMA3 (R706*)	Single nucleotide variant (nonsense)	Interstitial lung disease 2	GUncertain significance
Select item 557106	NM_000227.6(LAMA3):c.1A>T (p.Met1Leu)	LAMA3, LOC126862707 (M1L)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 555642	NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter)	LAMA3, LOC126862707 (W14*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 552389	NM_000227.6(LAMA3):c.2T>C (p.Met1Thr)	LAMA3, LOC126862707 (M1T)	Single nucleotide variant (missense variant +2 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 550430	NM_000227.6(LAMA3):c.108del (p.Leu38fs)	LAMA3, LOC126862707 (L38fs)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic/Likely pathogenic
Select item 370468	NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter)	LAMA3, LOC126862707 (Q31*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 326293	NM_000227.6(LAMA3):c.128A>C (p.Gln43Pro)	LAMA3, LOC126862707 (Q43P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 326292	NM_000227.6(LAMA3):c.110T>G (p.Phe37Cys)	LAMA3, LOC126862707 (F37C)	Single nucleotide variant (missense variant +1 more)	Laryngo-onycho-cutaneous syndrome +2 more	GBenign
Select item 326291	NM_000227.6(LAMA3):c.30C>T (p.Cys10=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	Laryngo-onycho-cutaneous syndrome +2 more	GConflicting classifications of pathogenicity
Select item 255574	NM_000227.6(LAMA3):c.150T>C (p.Tyr50=)	LAMA3, LOC126862707	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 42049	NM_000227.6(LAMA3):c.151dup (p.Val51fs)	LAMA3, LOC126862707 (V51fs)	Duplication (frameshift variant +1 more)	Laryngo-onycho-cutaneous syndrome +1 more	GPathogenic
Select item 21264	NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter)	LAMA3 (R2315* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic

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Items: 66