ClinVar for Gene (Select 3909) - ClinVar - NCBI

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	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 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
Select item 3117433	NM_198129.4(LAMA3):c.6967A>G (p.Thr2323Ala)	LAMA3 (T658A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117431	NM_198129.4(LAMA3):c.6856A>G (p.Ser2286Gly)	LAMA3 (S2286G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117430	NM_198129.4(LAMA3):c.1867G>C (p.Glu623Gln)	LAMA3 (E623Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117429	NM_198129.4(LAMA3):c.6649A>G (p.Lys2217Glu)	LAMA3 (K552E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117428	NM_198129.4(LAMA3):c.6503T>G (p.Leu2168Arg)	LAMA3 (L2112R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117427	NM_198129.4(LAMA3):c.1634A>C (p.Gln545Pro)	LAMA3 (Q545P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117425	NM_198129.4(LAMA3):c.1477T>C (p.Cys493Arg)	LAMA3 (C493R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117424	NM_198129.4(LAMA3):c.1447C>G (p.Pro483Ala)	LAMA3 (P483A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117423	NM_198129.4(LAMA3):c.6263A>G (p.Asp2088Gly)	LAMA3 (D423G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117422	NM_198129.4(LAMA3):c.1375A>G (p.Ile459Val)	LAMA3 (I459V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3117421	NM_198129.4(LAMA3):c.1340C>T (p.Pro447Leu)	LAMA3 (P447L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117420	NM_198129.4(LAMA3):c.1226A>G (p.Tyr409Cys)	LAMA3 (Y409C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117419	NM_198129.4(LAMA3):c.5926A>C (p.Met1976Leu)	LAMA3 (M367L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117418	NM_198129.4(LAMA3):c.1088G>A (p.Ser363Asn)	LAMA3 (S363N)	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 3063872	NM_198129.4(LAMA3):c.8295+1_8295+11del	LAMA3	Deletion (splice donor variant)	Junctional epidermolysis bullosa	GLikely pathogenic
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3048438	NM_198129.4(LAMA3):c.1273+143C>T	LAMA3	Single nucleotide variant (synonymous variant +1 more)	LAMA3-related disorder	GLikely benign
Select item 3044208	NM_198129.4(LAMA3):c.1742-7T>A	LAMA3	Single nucleotide variant (intron variant)	LAMA3-related disorder	GLikely benign
Select item 3041237	NM_198129.4(LAMA3):c.4584+14G>A	LAMA3	Single nucleotide variant (intron variant)	LAMA3-related disorder	GBenign
Select item 3039514	NM_198129.4(LAMA3):c.1273+51C>T	LAMA3 (R442*)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa, junctional 2A, intermediate +1 more	GConflicting classifications of pathogenicity
Select item 3032180	NM_198129.4(LAMA3):c.1860G>A (p.Leu620=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related disorder	GLikely benign
Select item 3029557	NM_198129.4(LAMA3):c.5133G>A (p.Ala1711=)	LAMA3	Single nucleotide variant (synonymous variant)	LAMA3-related disorder	GLikely benign
Select item 3024014	NM_198129.4(LAMA3):c.9737-15G>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023426	NM_198129.4(LAMA3):c.7308G>T (p.Val2436=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023067	NM_198129.4(LAMA3):c.9211-14T>G	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022936	NM_198129.4(LAMA3):c.9352-19C>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022296	NM_198129.4(LAMA3):c.7458del (p.Met2487fs)	LAMA3 (M2487fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3021936	NM_198129.4(LAMA3):c.9027-17G>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021880	NM_198129.4(LAMA3):c.8862+16T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020004	NM_198129.4(LAMA3):c.5837-4C>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019737	NM_198129.4(LAMA3):c.8703C>T (p.Val2901=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019400	NM_198129.4(LAMA3):c.5223-20T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018658	NM_198129.4(LAMA3):c.7159-8C>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018546	NM_198129.4(LAMA3):c.7015+18G>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018531	NM_198129.4(LAMA3):c.7016-12del	LAMA3	Deletion (intron variant)	not provided	GBenign
Select item 3018502	NM_198129.4(LAMA3):c.8437-20A>G	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018121	NM_198129.4(LAMA3):c.9026+20C>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016268	NM_198129.4(LAMA3):c.8044-17TC[2]	LAMA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3015576	NM_198129.4(LAMA3):c.7071C>T (p.Asn2357=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015157	NM_198129.4(LAMA3):c.5410+12C>A	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014460	NM_198129.4(LAMA3):c.7482-18T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013991	NM_198129.4(LAMA3):c.9211-13T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013124	NM_198129.4(LAMA3):c.5112+16C>T	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010699	NM_198129.4(LAMA3):c.5271C>T (p.Cys1757=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010594	NM_198129.4(LAMA3):c.8437-12T>C	LAMA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010385	NM_198129.4(LAMA3):c.7692A>G (p.Leu2564=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006221	NM_198129.4(LAMA3):c.5139G>A (p.Glu1713=)	LAMA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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