ClinVar for Gene (Select 3911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3239607	NM_005560.6(LAMA5):c.3778C>T (p.Pro1260Ser)	LAMA5 (P1260S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239047	NM_005560.6(LAMA5):c.7074C>G (p.Ser2358Arg)	LAMA5 (S2358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239031	NM_005560.6(LAMA5):c.8719G>A (p.Glu2907Lys)	LAMA5 (E2907K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3117560	NM_005560.6(LAMA5):c.9994C>T (p.Pro3332Ser)	LAMA5 (P3332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117559	NM_005560.6(LAMA5):c.9824G>A (p.Arg3275His)	LAMA5 (R3275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117558	NM_005560.6(LAMA5):c.9413C>T (p.Ser3138Leu)	LAMA5 (S3138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117556	NM_005560.6(LAMA5):c.8773G>T (p.Val2925Leu)	LAMA5 (V2925L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117555	NM_005560.6(LAMA5):c.8651C>T (p.Thr2884Ile)	LAMA5 (T2884I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117553	NM_005560.6(LAMA5):c.8288A>G (p.Lys2763Arg)	LAMA5 (K2763R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117552	NM_005560.6(LAMA5):c.8266C>T (p.Leu2756Phe)	LAMA5 (L2756F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117551	NM_005560.6(LAMA5):c.8149G>A (p.Gly2717Ser)	LAMA5 (G2717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117550	NM_005560.6(LAMA5):c.8018G>A (p.Gly2673Asp)	LAMA5 (G2673D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117548	NM_005560.6(LAMA5):c.7934G>A (p.Arg2645His)	LAMA5 (R2645H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117547	NM_005560.6(LAMA5):c.7907C>T (p.Ala2636Val)	LAMA5 (A2636V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117546	NM_005560.6(LAMA5):c.7700C>T (p.Ala2567Val)	LAMA5 (A2567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117545	NM_005560.6(LAMA5):c.7570G>A (p.Ala2524Thr)	LAMA5 (A2524T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117544	NM_005560.6(LAMA5):c.7525G>T (p.Val2509Phe)	LAMA5 (V2509F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117542	NM_005560.6(LAMA5):c.7130A>T (p.His2377Leu)	LAMA5 (H2377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117541	NM_005560.6(LAMA5):c.7117C>T (p.Arg2373Trp)	LAMA5 (R2373W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117540	NM_005560.6(LAMA5):c.6926G>T (p.Gly2309Val)	LAMA5 (G2309V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117538	NM_005560.6(LAMA5):c.6746G>A (p.Arg2249Gln)	LAMA5 (R2249Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117537	NM_005560.6(LAMA5):c.6422G>A (p.Arg2141His)	LAMA5 (R2141H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117536	NM_005560.6(LAMA5):c.6246C>G (p.His2082Gln)	LAMA5 (H2082Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117535	NM_005560.6(LAMA5):c.6151T>C (p.Cys2051Arg)	LAMA5 (C2051R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117534	NM_005560.6(LAMA5):c.6032A>C (p.Tyr2011Ser)	LAMA5 (Y2011S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117533	NM_005560.6(LAMA5):c.6025G>A (p.Gly2009Ser)	LAMA5 (G2009S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117531	NM_005560.6(LAMA5):c.556C>A (p.Gln186Lys)	LAMA5, LAMA5-AS1 (Q186K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117530	NM_005560.6(LAMA5):c.5323C>T (p.Arg1775Cys)	LAMA5 (R1775C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117529	NM_005560.6(LAMA5):c.5054T>C (p.Val1685Ala)	LAMA5 (V1685A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117528	NM_005560.6(LAMA5):c.5041G>A (p.Val1681Met)	LAMA5 (V1681M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117527	NM_005560.6(LAMA5):c.4906C>T (p.Arg1636Cys)	LAMA5 (R1636C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117526	NM_005560.6(LAMA5):c.4547C>A (p.Thr1516Asn)	LAMA5 (T1516N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117525	NM_005560.6(LAMA5):c.4541C>T (p.Pro1514Leu)	LAMA5 (P1514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117524	NM_005560.6(LAMA5):c.4501C>G (p.Pro1501Ala)	LAMA5 (P1501A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117523	NM_005560.6(LAMA5):c.4484C>T (p.Thr1495Met)	LAMA5 (T1495M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117522	NM_005560.6(LAMA5):c.442C>G (p.Leu148Val)	LAMA5 (L148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117521	NM_005560.6(LAMA5):c.4391T>C (p.Ile1464Thr)	LAMA5 (I1464T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117519	NM_005560.6(LAMA5):c.406G>A (p.Gly136Ser)	LAMA5 (G136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117518	NM_005560.6(LAMA5):c.3815A>G (p.Asp1272Gly)	LAMA5 (D1272G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117517	NM_005560.6(LAMA5):c.3791G>A (p.Arg1264Gln)	LAMA5 (R1264Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117516	NM_005560.6(LAMA5):c.3502G>T (p.Asp1168Tyr)	LAMA5 (D1168Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117515	NM_005560.6(LAMA5):c.3364C>T (p.Gln1122Ter)	LAMA5 (Q1122*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3117514	NM_005560.6(LAMA5):c.3311C>T (p.Pro1104Leu)	LAMA5 (P1104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117513	NM_005560.6(LAMA5):c.2791G>A (p.Val931Ile)	LAMA5 (V931I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117512	NM_005560.6(LAMA5):c.2599T>C (p.Tyr867His)	LAMA5 (Y867H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117511	NM_005560.6(LAMA5):c.2583-4C>G	LAMA5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3117510	NM_005560.6(LAMA5):c.2507C>T (p.Ala836Val)	LAMA5 (A836V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117509	NM_005560.6(LAMA5):c.2311G>A (p.Glu771Lys)	LAMA5 (E771K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117508	NM_005560.6(LAMA5):c.2310C>T (p.Pro770=)	LAMA5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3117507	NM_005560.6(LAMA5):c.2168G>T (p.Gly723Val)	LAMA5 (G723V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117505	NM_005560.6(LAMA5):c.2096G>A (p.Arg699Gln)	LAMA5 (R699Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117504	NM_005560.6(LAMA5):c.1436_1444del (p.Asn479_Thr481del)	LAMA5	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3117503	NM_005560.6(LAMA5):c.1372T>C (p.Cys458Arg)	LAMA5 (C458R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117502	NM_005560.6(LAMA5):c.1322A>G (p.Glu441Gly)	LAMA5 (E441G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117501	NM_005560.6(LAMA5):c.1261G>A (p.Asp421Asn)	LAMA5 (D421N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117499	NM_005560.6(LAMA5):c.1130G>A (p.Arg377His)	LAMA5 (R377H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117498	NM_005560.6(LAMA5):c.10966C>T (p.Pro3656Ser)	LAMA5 (P3656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117497	NM_005560.6(LAMA5):c.10951C>T (p.Pro3651Ser)	LAMA5 (P3651S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117495	NM_005560.6(LAMA5):c.10843A>T (p.Asn3615Tyr)	LAMA5 (N3615Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117494	NM_005560.6(LAMA5):c.10826C>T (p.Ala3609Val)	LAMA5 (A3609V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117493	NM_005560.6(LAMA5):c.1079A>G (p.Asn360Ser)	LAMA5 (N360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117492	NM_005560.6(LAMA5):c.10694G>A (p.Arg3565Gln)	LAMA5 (R3565Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117491	NM_005560.6(LAMA5):c.10601-5C>T	LAMA5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3117490	NM_005560.6(LAMA5):c.10281+6G>A	LAMA5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3067347	NM_005560.6(LAMA5):c.6870C>T (p.Ser2290=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065961	NM_005560.6(LAMA5):c.8786G>A (p.Cys2929Tyr)	LAMA5 (C2929Y)	Single nucleotide variant (missense variant)	Nephrotic syndrome, IIa 26	GUncertain significance
Select item 3061614	NM_005560.6(LAMA5):c.3723G>A (p.Pro1241=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3061526	NM_005560.6(LAMA5):c.4800G>A (p.Glu1600=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3060749	NM_005560.6(LAMA5):c.1448A>T (p.Glu483Val)	LAMA5 (E483V)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GUncertain significance
Select item 3060229	NM_005560.6(LAMA5):c.11025C>T (p.Val3675=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3059939	NM_005560.6(LAMA5):c.4236-7C>T	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign
Select item 3059747	NM_005560.6(LAMA5):c.10959C>T (p.Ala3653=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3056848	NM_005560.6(LAMA5):c.7928C>T (p.Ala2643Val)	LAMA5 (A2643V)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GBenign
Select item 3056350	NM_005560.6(LAMA5):c.8463T>C (p.Asp2821=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3054805	NM_005560.6(LAMA5):c.1032G>A (p.Pro344=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3054793	NM_005560.6(LAMA5):c.10735-4C>A	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign
Select item 3054592	NM_005560.6(LAMA5):c.6414C>T (p.Ser2138=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3053898	NM_005560.6(LAMA5):c.9324G>A (p.Thr3108=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3053887	NM_005560.6(LAMA5):c.3045C>T (p.Ser1015=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3053148	NM_005560.6(LAMA5):c.4980G>A (p.Arg1660=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3053087	NM_005560.6(LAMA5):c.1587C>T (p.Cys529=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3053039	NM_005560.6(LAMA5):c.3831C>T (p.Pro1277=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3052375	NM_005560.6(LAMA5):c.3177C>T (p.Ala1059=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3052056	NM_005560.6(LAMA5):c.5425C>T (p.Arg1809Cys)	LAMA5 (R1809C)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GLikely benign
Select item 3051570	NM_005560.6(LAMA5):c.9792C>T (p.Asn3264=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3051501	NM_005560.6(LAMA5):c.6043C>T (p.Leu2015=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3050959	NM_005560.6(LAMA5):c.10191C>T (p.Ser3397=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3050753	NM_005560.6(LAMA5):c.9729G>A (p.Arg3243=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3050684	NM_005560.6(LAMA5):c.5013G>T (p.Thr1671=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3050290	NM_005560.6(LAMA5):c.11046G>A (p.Glu3682=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3048446	NM_005560.6(LAMA5):c.9144G>A (p.Val3048=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3047864	NM_005560.6(LAMA5):c.4652+7G>T	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign
Select item 3047202	NM_005560.6(LAMA5):c.1992C>T (p.Cys664=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3047196	NM_005560.6(LAMA5):c.1095C>T (p.Ala365=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3047030	NM_005560.6(LAMA5):c.9210C>T (p.Pro3070=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3046918	NM_005560.6(LAMA5):c.1044G>C (p.Ala348=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3046363	NM_005560.6(LAMA5):c.7652C>T (p.Ala2551Val)	LAMA5 (A2551V)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GLikely benign
Select item 3045938	NM_005560.6(LAMA5):c.9806+10G>A	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign

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