ClinVar for Gene (Select 3909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381858	NM_198129.4(LAMA3):c.1789-1G>C	LAMA3	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa, junctional 2A, intermediate +2 more	GLikely pathogenic
Select item 3377707	NM_198129.4(LAMA3):c.6464dup (p.Leu2156fs)	LAMA3 (L2100fs +3 more)	Duplication (frameshift variant)	Epidermolysis bullosa, junctional 2B, severe	GLikely pathogenic
Select item 3375102	NM_198129.4(LAMA3):c.5724+4A>G	LAMA3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3374995	NM_198129.4(LAMA3):c.6122G>A (p.Arg2041Gln)	LAMA3 (R1985Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3371374	NM_198129.4(LAMA3):c.2044C>G (p.Gln682Glu)	LAMA3 (Q682E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364468	NM_198129.4(LAMA3):c.5113-3C>G	LAMA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362413	NM_198129.4(LAMA3):c.2020G>T (p.Glu674Ter)	LAMA3 (E674*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 2B, severe	GLikely pathogenic
Select item 3357754	NM_198129.4(LAMA3):c.4619C>T (p.Ala1540Val)	LAMA3 (A1540V)	Single nucleotide variant (missense variant)	LAMA3-related disorder	GUncertain significance
Select item 3355835	NM_198129.4(LAMA3):c.447+9C>T	LAMA3	Single nucleotide variant (intron variant)	LAMA3-related disorder	GLikely benign
Select item 3352243	NM_198129.4(LAMA3):c.4937G>A (p.Arg1646His)	LAMA3 (R1646H)	Single nucleotide variant (missense variant)	LAMA3-related disorder	GUncertain significance
Select item 3351618	NM_198129.4(LAMA3):c.4641C>T (p.Gly1547=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related disorder	GLikely benign
Select item 3346092	NM_198129.4(LAMA3):c.9379T>C (p.Cys3127Arg)	LAMA3 (C1462R +3 more)	Single nucleotide variant (missense variant)	LAMA3-related disorder	GUncertain significance
Select item 3342351	NM_198129.4(LAMA3):c.7348G>A (p.Gly2450Ser)	LAMA3 (G2394S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340010	NM_198129.4(LAMA3):c.6835+3C>T	LAMA3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3289922	NM_198129.4(LAMA3):c.26G>A (p.Gly9Asp)	LAMA3 (G9D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289921	NM_198129.4(LAMA3):c.6863C>T (p.Ala2288Val)	LAMA3 (A2232V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289920	NM_198129.4(LAMA3):c.3991C>G (p.Arg1331Gly)	LAMA3 (R1331G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289919	NM_198129.4(LAMA3):c.9527T>G (p.Leu3176Trp)	LAMA3 (L3176W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289917	NM_198129.4(LAMA3):c.5542C>A (p.Gln1848Lys)	LAMA3 (Q239K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289916	NM_198129.4(LAMA3):c.3664A>G (p.Met1222Val)	LAMA3 (M1222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289915	NM_198129.4(LAMA3):c.9390C>A (p.Asn3130Lys)	LAMA3 (N1521K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289914	NM_198129.4(LAMA3):c.6388T>C (p.Ser2130Pro)	LAMA3 (S521P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289913	NM_198129.4(LAMA3):c.1132T>A (p.Leu378Met)	LAMA3 (L378M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289912	NM_198129.4(LAMA3):c.8581C>T (p.Arg2861Trp)	LAMA3 (R2861W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289911	NM_198129.4(LAMA3):c.3995C>T (p.Thr1332Met)	LAMA3 (T1332M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289910	NM_198129.4(LAMA3):c.6094G>C (p.Glu2032Gln)	LAMA3 (E2032Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289909	NM_198129.4(LAMA3):c.5521C>T (p.Arg1841Cys)	LAMA3 (R1841C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289908	NM_198129.4(LAMA3):c.7267C>A (p.Pro2423Thr)	LAMA3 (P814T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289906	NM_198129.4(LAMA3):c.1558T>A (p.Cys520Ser)	LAMA3 (C520S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289905	NM_198129.4(LAMA3):c.1454C>G (p.Ala485Gly)	LAMA3 (A485G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289904	NM_198129.4(LAMA3):c.1439C>T (p.Ser480Leu)	LAMA3 (S480L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289903	NM_198129.4(LAMA3):c.53C>G (p.Pro18Arg)	LAMA3 (P18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289902	NM_198129.4(LAMA3):c.8566G>A (p.Asp2856Asn)	LAMA3 (D1247N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289901	NM_198129.4(LAMA3):c.797A>G (p.Asn266Ser)	LAMA3 (N266S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289900	NM_198129.4(LAMA3):c.4941A>G (p.Ile1647Met)	LAMA3 (I1647M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289897	NM_198129.4(LAMA3):c.9269G>A (p.Arg3090Gln)	LAMA3 (R1425Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289896	NM_198129.4(LAMA3):c.416A>G (p.Asn139Ser)	LAMA3 (N139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289895	NM_198129.4(LAMA3):c.4481C>G (p.Ser1494Cys)	LAMA3 (S1494C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289894	NM_198129.4(LAMA3):c.6116G>A (p.Arg2039His)	LAMA3 (R1983H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289893	NM_198129.4(LAMA3):c.3083G>T (p.Arg1028Leu)	LAMA3 (R1028L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289892	NM_198129.4(LAMA3):c.2459T>C (p.Leu820Pro)	LAMA3 (L820P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289891	NM_198129.4(LAMA3):c.8644C>T (p.Arg2882Trp)	LAMA3 (R1217W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289889	NM_198129.4(LAMA3):c.4264G>A (p.Gly1422Arg)	LAMA3 (G1422R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289888	NM_198129.4(LAMA3):c.7213A>G (p.Asn2405Asp)	LAMA3 (N2405D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289887	NM_198129.4(LAMA3):c.5048G>A (p.Arg1683Gln)	LAMA3 (R74Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289886	NM_198129.4(LAMA3):c.7337G>A (p.Arg2446Gln)	LAMA3 (R2390Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289885	NM_198129.4(LAMA3):c.4472T>A (p.Ile1491Asn)	LAMA3 (I1491N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289884	NM_198129.4(LAMA3):c.8759G>C (p.Arg2920Thr)	LAMA3 (R2920T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289883	NM_198129.4(LAMA3):c.5512G>A (p.Glu1838Lys)	LAMA3 (E1838K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3242762	NC_000018.9:g.(?_20516815)_(21534612_?)del	ANKRD29, CABLES1 +6 more	Deletion	Niemann-Pick disease, type C1	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 3235108	NM_198129.4(LAMA3):c.6027G>A (p.Trp2009Ter)	LAMA3 (W1953* +3 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 2B, severe	GLikely pathogenic
Select item 3234993	NM_198129.4(LAMA3):c.4411C>T (p.Arg1471Ter)	LAMA3 (R1471*)	Single nucleotide variant (nonsense)	Laryngo-onycho-cutaneous syndrome	GLikely pathogenic
Select item 3234987	NM_198129.4(LAMA3):c.6412del (p.Val2139fs)	LAMA3 (V2083fs +3 more)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 2A, intermediate	GLikely pathogenic
Select item 3117482	NM_198129.4(LAMA3):c.5821A>G (p.Ile1941Val)	LAMA3 (I1941V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117481	NM_198129.4(LAMA3):c.5750A>C (p.Gln1917Pro)	LAMA3 (Q308P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117480	NM_198129.4(LAMA3):c.775C>T (p.Arg259Cys)	LAMA3 (R259C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3117478	NM_198129.4(LAMA3):c.5390G>A (p.Ser1797Asn)	LAMA3 (S188N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117477	NM_198129.4(LAMA3):c.523G>C (p.Val175Leu)	LAMA3 (V175L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117476	NM_198129.4(LAMA3):c.5341G>A (p.Gly1781Arg)	LAMA3 (G172R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117475	NM_198129.4(LAMA3):c.9881C>T (p.Pro3294Leu)	LAMA3 (P1685L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117474	NM_198129.4(LAMA3):c.4736G>A (p.Arg1579Gln)	LAMA3 (R1579Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117473	NM_198129.4(LAMA3):c.9557T>C (p.Ile3186Thr)	LAMA3 (I1521T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117472	NM_198129.4(LAMA3):c.4642G>A (p.Asp1548Asn)	LAMA3 (D1548N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117471	NM_198129.4(LAMA3):c.4618G>A (p.Ala1540Thr)	LAMA3 (A1540T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117470	NM_198129.4(LAMA3):c.4598G>A (p.Gly1533Asp)	LAMA3 (G1533D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117469	NM_198129.4(LAMA3):c.4407T>A (p.His1469Gln)	LAMA3 (H1469Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117468	NM_198129.4(LAMA3):c.431C>G (p.Thr144Ser)	LAMA3 (T144S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117467	NM_198129.4(LAMA3):c.9086G>A (p.Gly3029Asp)	LAMA3 (G2973D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117466	NM_198129.4(LAMA3):c.8974A>T (p.Ile2992Phe)	LAMA3 (I1383F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117465	NM_198129.4(LAMA3):c.8948A>G (p.Asn2983Ser)	LAMA3 (N1318S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117463	NM_198129.4(LAMA3):c.4076C>A (p.Ser1359Tyr)	LAMA3 (S1359Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117462	NM_198129.4(LAMA3):c.4075T>G (p.Ser1359Ala)	LAMA3 (S1359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117461	NM_198129.4(LAMA3):c.8852G>A (p.Arg2951His)	LAMA3 (R1342H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117460	NM_198129.4(LAMA3):c.3968C>T (p.Thr1323Met)	LAMA3 (T1323M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117458	NM_198129.4(LAMA3):c.3956G>T (p.Cys1319Phe)	LAMA3 (C1319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117457	NM_198129.4(LAMA3):c.3950G>A (p.Arg1317His)	LAMA3 (R1317H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117456	NM_198129.4(LAMA3):c.8622G>C (p.Arg2874Ser)	LAMA3 (R1209S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117455	NM_198129.4(LAMA3):c.3787G>A (p.Ala1263Thr)	LAMA3 (A1263T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117454	NM_198129.4(LAMA3):c.3781A>G (p.Lys1261Glu)	LAMA3 (K1261E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117453	NM_198129.4(LAMA3):c.8582G>A (p.Arg2861Gln)	LAMA3 (R2805Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117452	NM_198129.4(LAMA3):c.374G>A (p.Arg125His)	LAMA3 (R125H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117451	NM_198129.4(LAMA3):c.3610G>A (p.Val1204Ile)	LAMA3 (V1204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117450	NM_198129.4(LAMA3):c.3568A>G (p.Thr1190Ala)	LAMA3 (T1190A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117449	NM_198129.4(LAMA3):c.3544A>G (p.Ile1182Val)	LAMA3 (I1182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117448	NM_198129.4(LAMA3):c.8300T>G (p.Val2767Gly)	LAMA3 (V2767G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117446	NM_198129.4(LAMA3):c.8189C>G (p.Ser2730Cys)	LAMA3 (S2674C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117445	NM_198129.4(LAMA3):c.8161A>G (p.Ile2721Val)	LAMA3 (I1056V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117444	NM_198129.4(LAMA3):c.3331C>T (p.Pro1111Ser)	LAMA3 (P1111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117442	NM_198129.4(LAMA3):c.7710T>A (p.Asn2570Lys)	LAMA3 (N2570K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117441	NM_198129.4(LAMA3):c.7597C>A (p.Pro2533Thr)	LAMA3 (P2477T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117440	NM_198129.4(LAMA3):c.7445C>T (p.Thr2482Ile)	LAMA3 (T2426I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117439	NM_198129.4(LAMA3):c.253G>A (p.Val85Ile)	LAMA3 (V85I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117438	NM_198129.4(LAMA3):c.2417A>G (p.Tyr806Cys)	LAMA3 (Y806C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117437	NM_198129.4(LAMA3):c.2402G>T (p.Gly801Val)	LAMA3 (G801V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117436	NM_198129.4(LAMA3):c.7198G>A (p.Glu2400Lys)	LAMA3 (E2344K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117434	NM_198129.4(LAMA3):c.2236T>C (p.Phe746Leu)	LAMA3 (F746L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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