"Ambry Genetics"[submitter] AND "LAMB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444602	NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)	LAMB2 (I1793M)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GUncertain significance
Select item 3117606	NM_002292.4(LAMB2):c.5347G>A (p.Val1783Met)	LAMB2 (V1783M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493777	NM_002292.4(LAMB2):c.5337G>C (p.Arg1779Ser)	LAMB2 (R1779S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290013	NM_002292.4(LAMB2):c.5312C>T (p.Ala1771Val)	LAMB2 (A1771V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117605	NM_002292.4(LAMB2):c.5303G>A (p.Ser1768Asn)	LAMB2 (S1768N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556244	NM_002292.4(LAMB2):c.5281G>A (p.Glu1761Lys)	LAMB2 (E1761K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472497	NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val)	LAMB2 (A1738V)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 3290014	NM_002292.4(LAMB2):c.5104C>A (p.Leu1702Ile)	LAMB2 (L1702I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290012	NM_002292.4(LAMB2):c.5065G>T (p.Gly1689Cys)	LAMB2 (G1689C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345973	NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)	LAMB2 (A1680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 345976	NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln)	LAMB2 (R1674Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 2317956	NM_002292.4(LAMB2):c.4975A>G (p.Arg1659Gly)	LAMB2 (R1659G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1629160	NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln)	LAMB2 (R1651Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 859927	NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp)	LAMB2 (R1651W)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2256835	NM_002292.4(LAMB2):c.4923+1G>T	LAMB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2241629	NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)	LAMB2 (G1623S)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 2288745	NM_002292.4(LAMB2):c.4847G>A (p.Arg1616Gln)	LAMB2 (R1616Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117604	NM_002292.4(LAMB2):c.4845G>C (p.Gln1615His)	LAMB2 (Q1615H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290008	NM_002292.4(LAMB2):c.4822C>G (p.Gln1608Glu)	LAMB2 (Q1608E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221716	NM_002292.4(LAMB2):c.4772G>A (p.Arg1591Gln)	LAMB2 (R1591Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636172	NM_002292.4(LAMB2):c.4766A>C (p.Asp1589Ala)	LAMB2 (D1589A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2478371	NM_002292.4(LAMB2):c.4738G>A (p.Val1580Met)	LAMB2 (V1580M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413763	NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys)	LAMB2 (R1575C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2336409	NM_002292.4(LAMB2):c.4691G>A (p.Arg1564Gln)	LAMB2 (R1564Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228094	NM_002292.4(LAMB2):c.4679C>G (p.Ala1560Gly)	LAMB2 (A1560G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117603	NM_002292.4(LAMB2):c.4601A>G (p.Glu1534Gly)	LAMB2 (E1534G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 472486	NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg)	LAMB2 (K1520R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 3117602	NM_002292.4(LAMB2):c.4505G>A (p.Arg1502Lys)	LAMB2 (R1502K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301770	NM_002292.4(LAMB2):c.4484T>A (p.Leu1495Gln)	LAMB2 (L1495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491928	NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln)	LAMB2 (R1490Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 662766	NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp)	LAMB2 (R1482W)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2600341	NM_002292.4(LAMB2):c.4420C>T (p.Leu1474Phe)	LAMB2 (L1474F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483857	NM_002292.4(LAMB2):c.4364G>A (p.Arg1455Gln)	LAMB2 (R1455Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371052	NM_002292.4(LAMB2):c.4351C>A (p.Leu1451Ile)	LAMB2 (L1451I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241627	NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg)	LAMB2 (G1391R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3117601	NM_002292.4(LAMB2):c.4168C>T (p.Leu1390Phe)	LAMB2 (L1390F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029435	NM_002292.4(LAMB2):c.4099C>T (p.Arg1367Trp)	LAMB2 (R1367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1399805	NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)	LAMB2 (H1366R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1521297	NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu)	LAMB2 (P1357L)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GUncertain significance
Select item 345981	NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser)	LAMB2 (N1348S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1350662	NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)	LAMB2 (R1345C)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2604845	NM_002292.4(LAMB2):c.4030G>A (p.Glu1344Lys)	LAMB2 (E1344K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 901392	NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn)	LAMB2 (S1332N)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 1492456	NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp)	LAMB2 (N1325D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3117600	NM_002292.4(LAMB2):c.3922A>T (p.Asn1308Tyr)	LAMB2 (N1308Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218082	NM_002292.4(LAMB2):c.3817A>G (p.Thr1273Ala)	LAMB2 (T1273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309725	NM_002292.4(LAMB2):c.3771G>C (p.Gln1257His)	LAMB2 (Q1257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189778	NM_002292.4(LAMB2):c.3764C>G (p.Thr1255Ser)	LAMB2 (T1255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 472480	NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala)	LAMB2 (T1255A)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 472479	NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr)	LAMB2 (A1253T)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 3117599	NM_002292.4(LAMB2):c.3743G>A (p.Arg1248His)	LAMB2 (R1248H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117598	NM_002292.4(LAMB2):c.3692T>C (p.Phe1231Ser)	LAMB2 (F1231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1384188	NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp)	LAMB2 (G1225D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1361448	NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met)	LAMB2 (T1221M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2476915	NM_002292.4(LAMB2):c.3644C>A (p.Ala1215Glu)	LAMB2 (A1215E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460601	NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln)	LAMB2 (R1214Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 577761	NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp)	LAMB2 (R1214W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1712362	NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)	LAMB2 (R1210C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1401286	NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val)	LAMB2 (A1206V)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2040030	NM_002292.4(LAMB2):c.3598G>C (p.Val1200Leu)	LAMB2 (V1200L)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2211642	NM_002292.4(LAMB2):c.3583G>A (p.Gly1195Arg)	LAMB2 (G1195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447698	NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His)	LAMB2 (R1157H)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GUncertain significance
Select item 3290011	NM_002292.4(LAMB2):c.3406C>A (p.Pro1136Thr)	LAMB2 (P1136T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285570	NM_002292.4(LAMB2):c.3350G>A (p.Arg1117His)	LAMB2 (R1117H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2242367	NM_002292.4(LAMB2):c.3350G>T (p.Arg1117Leu)	LAMB2 (R1117L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970554	NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)	LAMB2 (P1074L)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2260457	NM_002292.4(LAMB2):c.3116C>T (p.Thr1039Ile)	LAMB2 (T1039I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173628	NM_002292.4(LAMB2):c.3095G>A (p.Arg1032Gln)	LAMB2 (R1032Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 649098	NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln)	LAMB2 (H1012Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2470594	NM_002292.4(LAMB2):c.2925C>A (p.Asp975Glu)	LAMB2 (D975E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000358	NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val)	LAMB2 (E947V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3117594	NM_002292.4(LAMB2):c.2732G>A (p.Gly911Asp)	LAMB2 (G911D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1001115	NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala)	LAMB2 (G901A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 643558	NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile)	LAMB2 (N887I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2623336	NM_002292.4(LAMB2):c.2623C>T (p.Arg875Trp)	LAMB2, LOC129936738 (R875W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494860	NM_002292.4(LAMB2):c.2614C>T (p.Pro872Ser)	LAMB2, LOC129936738 (P872S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 648085	NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)	LAMB2, LOC129936738 (R863H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2554080	NM_002292.4(LAMB2):c.2587C>T (p.Arg863Cys)	LAMB2, LOC129936738 (R863C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620714	NM_002292.4(LAMB2):c.2567C>T (p.Ala856Val)	LAMB2, LOC129936738 (A856V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955865	NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)	LAMB2 (G824S)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 3117593	NM_002292.4(LAMB2):c.2403G>C (p.Gln801His)	LAMB2 (Q801H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 576812	NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg)	LAMB2 (S757R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 649895	NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys)	LAMB2 (R740C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3117591	NM_002292.4(LAMB2):c.2213T>C (p.Leu738Pro)	LAMB2 (L738P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1513161	NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys)	LAMB2 (M729K)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2493934	NM_002292.4(LAMB2):c.2176G>A (p.Val726Met)	LAMB2 (V726M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809486	NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys)	LAMB2 (R723C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 945280	NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)	LAMB2 (P722H)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 1435498	NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu)	LAMB2 (S717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2383903	NM_002292.4(LAMB2):c.2144T>C (p.Ile715Thr)	LAMB2 (I715T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 651471	NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu)	LAMB2 (F677L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3117590	NM_002292.4(LAMB2):c.2027T>G (p.Ile676Arg)	LAMB2 (I676R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232035	NM_002292.4(LAMB2):c.1847C>T (p.Pro616Leu)	LAMB2 (P616L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1425731	NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln)	LAMB2 (R601Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3117589	NM_002292.4(LAMB2):c.1799T>G (p.Val600Gly)	LAMB2 (V600G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371031	NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro)	LAMB2 (S597P)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 940370	NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)	LAMB2 (P588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 574006	NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)	LAMB2 (R584S)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 2486330	NM_002292.4(LAMB2):c.1741G>A (p.Val581Met)	LAMB2 (V581M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1501177	NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn)	LAMB2 (D580N)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +3 more	GUncertain significance

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