ClinVar for Gene (Select 3914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375108	NM_000228.3(LAMB3):c.2761C>A (p.Leu921Met)	LAMB3 (L921M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375107	NM_000228.3(LAMB3):c.988G>A (p.Ala330Thr)	LAMB3 (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372019	NM_000228.3(LAMB3):c.1989G>C (p.Gln663His)	LAMB3 (Q663H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372018	NM_000228.3(LAMB3):c.3443C>A (p.Thr1148Lys)	LAMB3 (T1148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371375	NM_000228.3(LAMB3):c.3266A>G (p.Lys1089Arg)	LAMB3 (K1089R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366768	NM_000228.3(LAMB3):c.3009C>T (p.Gly1003=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa	GLikely pathogenic
Select item 3366577	NM_000228.3(LAMB3):c.1858C>A (p.Leu620Met)	LAMB3 (L620M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3361673	NM_000228.3(LAMB3):c.2458G>A (p.Gly820Ser)	LAMB3 (G820S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356991	NM_000228.3(LAMB3):c.482G>T (p.Arg161Leu)	LAMB3 (R161L)	Single nucleotide variant (missense variant)	LAMB3-related disorder	GUncertain significance
Select item 3353618	NM_000228.3(LAMB3):c.439C>T (p.Gln147Ter)	LAMB3 (Q147*)	Single nucleotide variant (nonsense)	LAMB3-related disorder	GLikely pathogenic
Select item 3353225	NM_000228.3(LAMB3):c.1819G>A (p.Ala607Thr)	LAMB3 (A607T)	Single nucleotide variant (missense variant)	LAMB3-related disorder	GUncertain significance
Select item 3351955	NM_000228.3(LAMB3):c.501C>G (p.Ser167Arg)	LAMB3 (S167R)	Single nucleotide variant (missense variant)	LAMB3-related disorder	GUncertain significance
Select item 3339854	NM_000228.3(LAMB3):c.968A>C (p.Glu323Ala)	LAMB3 (E323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290026	NM_000228.3(LAMB3):c.2888A>G (p.Gln963Arg)	LAMB3 (Q963R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290025	NM_000228.3(LAMB3):c.2212C>T (p.Leu738Phe)	LAMB3 (L738F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290024	NM_000228.3(LAMB3):c.2633G>A (p.Arg878His)	LAMB3 (R878H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290023	NM_000228.3(LAMB3):c.431G>A (p.Arg144Gln)	LAMB3 (R144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3290022	NM_000228.3(LAMB3):c.2511G>C (p.Glu837Asp)	LAMB3 (E837D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290021	NM_000228.3(LAMB3):c.278G>A (p.Arg93His)	LAMB3 (R93H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290020	NM_000228.3(LAMB3):c.2715T>G (p.Asp905Glu)	LAMB3 (D905E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290019	NM_000228.3(LAMB3):c.1706G>C (p.Arg569Pro)	LAMB3 (R569P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290018	NM_000228.3(LAMB3):c.1631C>T (p.Pro544Leu)	LAMB3 (P544L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290016	NM_000228.3(LAMB3):c.1336G>A (p.Glu446Lys)	LAMB3 (E446K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290015	NM_000228.3(LAMB3):c.2071G>A (p.Gly691Ser)	LAMB3 (G691S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253096	NM_000228.3(LAMB3):c.298+3_298+8del	LAMB3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3247879	NC_000001.10:g.(?_209823299)_(209825713_?)del	LAMB3	Deletion	not provided	GPathogenic
Select item 3247878	NC_000001.10:g.(?_209791232)_(209792024_?)del	LAMB3	Deletion	not provided	GPathogenic
Select item 3117637	NM_000228.3(LAMB3):c.829G>A (p.Asp277Asn)	LAMB3 (D277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117636	NM_000228.3(LAMB3):c.811A>G (p.Thr271Ala)	LAMB3 (T271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117635	NM_000228.3(LAMB3):c.697C>G (p.His233Asp)	LAMB3 (H233D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117633	NM_000228.3(LAMB3):c.616C>A (p.Gln206Lys)	LAMB3 (Q206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117632	NM_000228.3(LAMB3):c.491G>A (p.Arg164Gln)	LAMB3 (R164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117631	NM_000228.3(LAMB3):c.490C>T (p.Arg164Trp)	LAMB3 (R164W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117629	NM_000228.3(LAMB3):c.3493G>A (p.Val1165Met)	LAMB3 (V1165M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117627	NM_000228.3(LAMB3):c.3271C>G (p.Arg1091Gly)	LAMB3 (R1091G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117626	NM_000228.3(LAMB3):c.306C>G (p.Asn102Lys)	LAMB3 (N102K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117625	NM_000228.3(LAMB3):c.2879G>A (p.Arg960His)	LAMB3 (R960H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117624	NM_000228.3(LAMB3):c.2495C>T (p.Ala832Val)	LAMB3 (A832V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117623	NM_000228.3(LAMB3):c.2273G>A (p.Gly758Glu)	LAMB3 (G758E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117622	NM_000228.3(LAMB3):c.2200G>A (p.Asp734Asn)	LAMB3 (D734N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117621	NM_000228.3(LAMB3):c.2198C>T (p.Ser733Phe)	LAMB3 (S733F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117620	NM_000228.3(LAMB3):c.2146C>T (p.Arg716Trp)	LAMB3 (R716W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117619	NM_000228.3(LAMB3):c.1852C>T (p.Arg618Cys)	LAMB3 (R618C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117617	NM_000228.3(LAMB3):c.1808G>A (p.Arg603His)	LAMB3 (R603H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117616	NM_000228.3(LAMB3):c.1777C>T (p.Arg593Trp)	LAMB3 (R593W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117615	NM_000228.3(LAMB3):c.1769C>T (p.Ala590Val)	LAMB3 (A590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117614	NM_000228.3(LAMB3):c.1735G>A (p.Val579Met)	LAMB3 (V579M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117613	NM_000228.3(LAMB3):c.1734C>G (p.Cys578Trp)	LAMB3 (C578W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117612	NM_000228.3(LAMB3):c.1457A>G (p.His486Arg)	LAMB3 (H486R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117611	NM_000228.3(LAMB3):c.1373T>C (p.Val458Ala)	LAMB3 (V458A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117609	NM_000228.3(LAMB3):c.1274C>T (p.Pro425Leu)	LAMB3 (P425L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065678	NM_000228.3(LAMB3):c.1598-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3065670	NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)	LAMB3 (N494K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 3065544	NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)	LAMB3 (C325fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3057135	NM_000228.3(LAMB3):c.1133-30C>T	LAMB3	Single nucleotide variant (intron variant)	LAMB3-related disorder	GLikely benign
Select item 3032700	NM_000228.3(LAMB3):c.629-5C>A	LAMB3	Single nucleotide variant (intron variant)	LAMB3-related disorder	GLikely benign
Select item 3025619	NM_000228.3(LAMB3):c.1189G>A (p.Gly397Arg)	LAMB3 (G397R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023843	NM_000228.3(LAMB3):c.372+16dup	LAMB3	Duplication (intron variant)	not provided	GBenign
Select item 3022690	NM_000228.3(LAMB3):c.2137+12G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020940	NM_000228.3(LAMB3):c.2909+11G>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020751	NM_000228.3(LAMB3):c.1785G>A (p.Gln595=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014401	NM_000228.3(LAMB3):c.1842G>A (p.Gly614=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014107	NM_000228.3(LAMB3):c.565-14C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013962	NM_000228.3(LAMB3):c.1289-10C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013140	NM_000228.3(LAMB3):c.1288+12G>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011764	NM_000228.3(LAMB3):c.2910-6_2910-4del	LAMB3	Deletion (intron variant)	not provided	GLikely benign
Select item 3011307	NM_000228.3(LAMB3):c.633G>A (p.Val211=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011147	NM_000228.3(LAMB3):c.903dup (p.Trp302fs)	LAMB3 (W302fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3011102	NM_000228.3(LAMB3):c.564+11G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010572	NM_000228.3(LAMB3):c.2049G>A (p.Glu683=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008217	NM_000228.3(LAMB3):c.2359-16C>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008157	NM_000228.3(LAMB3):c.579T>C (p.Leu193=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007973	NM_000228.3(LAMB3):c.2702-12G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3007701	NM_000228.3(LAMB3):c.1846G>T (p.Glu616Ter)	LAMB3 (E616*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007675	NM_000228.3(LAMB3):c.2712dup (p.Asp905Ter)	LAMB3 (D905*)	Duplication (nonsense)	not provided	GPathogenic
Select item 3006097	NM_000228.3(LAMB3):c.1903C>A (p.Arg635=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005789	NM_000228.3(LAMB3):c.3321T>C (p.Ser1107=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005125	NM_000228.3(LAMB3):c.2277A>G (p.Gly759=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002252	NM_000228.3(LAMB3):c.372+13G>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002145	NM_000228.3(LAMB3):c.822+16G>A	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000724	NM_000228.3(LAMB3):c.1598-6C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998536	NM_000228.3(LAMB3):c.3042G>A (p.Arg1014=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997974	NM_000228.3(LAMB3):c.675C>T (p.Ala225=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997781	NM_000228.3(LAMB3):c.2187T>C (p.Ala729=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995335	NM_000228.3(LAMB3):c.1101C>A (p.Arg367=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993540	NM_000228.3(LAMB3):c.2661C>A (p.Arg887=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992650	NM_000228.3(LAMB3):c.1215G>A (p.Val405=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991999	NM_000228.3(LAMB3):c.184-17A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991825	NM_000228.3(LAMB3):c.564+16C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989232	NM_000228.3(LAMB3):c.2964G>T (p.Arg988=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989135	NM_000228.3(LAMB3):c.298+18A>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986156	NM_000228.3(LAMB3):c.299-10G>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986145	NM_000228.3(LAMB3):c.298+12C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984274	NM_000228.3(LAMB3):c.943+19C>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983542	NM_000228.3(LAMB3):c.629-10G>T	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982192	NM_000228.3(LAMB3):c.2010C>T (p.Pro670=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978022	NM_000228.3(LAMB3):c.696C>T (p.Tyr232=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975819	NM_000228.3(LAMB3):c.823-7C>G	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975127	NM_000228.3(LAMB3):c.3228+18T>C	LAMB3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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