ClinVar for Gene (Select 4087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237537	NM_005901.6(SMAD2):c.544dup (p.Arg182fs)	SMAD2 (R152fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic
Select item 3225164	NM_005901.6(SMAD2):c.735T>C (p.Ser245=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225163	NM_005901.6(SMAD2):c.505A>C (p.Arg169=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225162	NM_005901.6(SMAD2):c.333T>G (p.Leu111=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225161	NM_005901.6(SMAD2):c.289G>C (p.Asp97His)	SMAD2 (D97H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3225160	NM_005901.6(SMAD2):c.263G>A (p.Ser88Asn)	SMAD2 (S88N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3225159	NM_005901.6(SMAD2):c.260T>A (p.Leu87Gln)	SMAD2 (L87Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3225158	NM_005901.6(SMAD2):c.177T>C (p.Asp59=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225157	NM_005901.6(SMAD2):c.1212C>T (p.Ala404=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225156	NM_005901.6(SMAD2):c.1201G>C (p.Gly401Arg)	SMAD2 (G371R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3031308	NM_005901.6(SMAD2):c.1304C>G (p.Pro435Arg)	SMAD2 (P405R +1 more)	Single nucleotide variant (missense variant)	SMAD2-related disorder	GUncertain significance
Select item 3016600	NM_005901.6(SMAD2):c.1136-5C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012745	NM_005901.6(SMAD2):c.815C>T (p.Ala272Val)	SMAD2 (A242V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997754	NM_005901.6(SMAD2):c.1287G>A (p.Gln429=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996610	NM_005901.6(SMAD2):c.1135+14A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995224	NM_005901.6(SMAD2):c.1044G>A (p.Glu348=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992726	NM_005901.6(SMAD2):c.1280+9T>C	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990377	NM_005901.6(SMAD2):c.657A>G (p.Glu219=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989971	NM_005901.6(SMAD2):c.785-18T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987346	NM_005901.6(SMAD2):c.1136-9T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986780	NM_005901.6(SMAD2):c.521-14T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986714	NM_005901.6(SMAD2):c.327-4A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980055	NM_005901.6(SMAD2):c.784+15T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976371	NM_005901.6(SMAD2):c.655+12T>C	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967124	NM_005901.6(SMAD2):c.327-8C>G	SMAD2	Single nucleotide variant (intron variant)	SMAD2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2963157	NM_005901.6(SMAD2):c.26C>T (p.Pro9Leu)	SMAD2 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920901	NM_005901.6(SMAD2):c.372A>C (p.Pro124=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907941	NM_005901.6(SMAD2):c.573G>A (p.Pro191=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902125	NM_005901.6(SMAD2):c.414C>T (p.His138=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892077	NM_005901.6(SMAD2):c.359G>A (p.Arg120Gln)	SMAD2 (R90Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881553	NM_005901.6(SMAD2):c.591T>A (p.Thr197=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880858	NM_005901.6(SMAD2):c.753T>G (p.Pro251=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878217	NM_005901.6(SMAD2):c.784+19C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875617	NM_005901.6(SMAD2):c.1136-9del	SMAD2	Deletion (intron variant)	not provided	GBenign
Select item 2869880	NM_005901.6(SMAD2):c.912C>T (p.Asp304=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865243	NM_005901.6(SMAD2):c.394T>A (p.Trp132Arg)	SMAD2 (W132R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2863589	NM_005901.6(SMAD2):c.242G>C (p.Cys81Ser)	SMAD2 (C81S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862375	NM_005901.6(SMAD2):c.521-4T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859317	NM_005901.6(SMAD2):c.329C>T (p.Ser110Phe)	SMAD2 (S110F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846439	NM_005901.6(SMAD2):c.961C>T (p.Arg321Ter)	SMAD2 (R291* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2845192	NM_005901.6(SMAD2):c.1318C>T (p.Leu440Phe)	SMAD2 (L410F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843052	NM_005901.6(SMAD2):c.1166A>G (p.Glu389Gly)	SMAD2 (E389G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839668	NM_005901.6(SMAD2):c.656-13dup	SMAD2	Duplication (intron variant)	not provided	GBenign
Select item 2838928	NM_005901.6(SMAD2):c.1325T>G (p.Leu442Arg)	SMAD2 (L412R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2837327	NM_005901.6(SMAD2):c.1279C>T (p.Arg427Ter)	SMAD2 (R427* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2835691	NM_005901.6(SMAD2):c.219A>G (p.Lys73=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828617	NM_005901.6(SMAD2):c.153G>A (p.Lys51=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823893	NM_005901.6(SMAD2):c.1188G>A (p.Gln396=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820934	NM_005901.6(SMAD2):c.609C>T (p.Asn203=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820931	NM_005901.6(SMAD2):c.521-15_521-13dup	SMAD2	Duplication (intron variant)	not provided	GLikely benign
Select item 2820742	NM_005901.6(SMAD2):c.399C>G (p.Arg133=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811944	NM_005901.6(SMAD2):c.1000A>C (p.Arg334=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808441	NM_005901.6(SMAD2):c.1281-10T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800300	NM_005901.6(SMAD2):c.994A>G (p.Ile332Val)	SMAD2 (I302V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795434	NM_005901.6(SMAD2):c.918A>C (p.Ser306=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788986	NM_005901.6(SMAD2):c.1281-16G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787693	NM_005901.6(SMAD2):c.1289C>T (p.Thr430Met)	SMAD2 (T430M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786336	NM_005901.6(SMAD2):c.5C>T (p.Ser2Leu)	SMAD2 (S2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785726	NM_005901.6(SMAD2):c.320A>G (p.Gln107Arg)	SMAD2 (Q107R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2768552	NM_005901.6(SMAD2):c.748T>A (p.Ser250Thr)	SMAD2 (S220T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763328	NM_005901.6(SMAD2):c.626G>C (p.Gly209Ala)	SMAD2 (G179A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755823	NM_005901.6(SMAD2):c.1161C>G (p.Asn387Lys)	SMAD2 (N387K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754280	NM_005901.6(SMAD2):c.527C>G (p.Pro176Arg)	SMAD2 (P176R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750195	NM_005901.6(SMAD2):c.244T>C (p.Ser82Pro)	SMAD2 (S82P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2746920	NM_005901.6(SMAD2):c.715C>G (p.Gln239Glu)	SMAD2 (Q239E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745481	NM_005901.6(SMAD2):c.337G>A (p.Gly113Ser)	SMAD2 (G83S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743215	NM_005901.6(SMAD2):c.392T>A (p.Leu131Ter)	SMAD2 (L101* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2738969	NM_005901.6(SMAD2):c.500A>G (p.Tyr167Cys)	SMAD2 (Y167C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738550	NM_005901.6(SMAD2):c.1082A>G (p.Asn361Ser)	SMAD2 (N331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735336	NM_005901.6(SMAD2):c.656-9C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732234	NM_005901.6(SMAD2):c.1234T>C (p.Cys412Arg)	SMAD2 (C382R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721836	NM_005901.6(SMAD2):c.873T>C (p.His291=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710734	NM_005901.6(SMAD2):c.1380A>G (p.Ser460=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2696102	NM_005901.6(SMAD2):c.655+1G>C	SMAD2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2695814	NM_005901.6(SMAD2):c.1179T>C (p.Leu393=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633569	NM_005901.6(SMAD2):c.398G>A (p.Arg133His)	SMAD2 (R103H +1 more)	Single nucleotide variant (missense variant)	SMAD2-related disorder	GUncertain significance
Select item 2586910	NM_005901.6(SMAD2):c.960C>T (p.Asn320=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2584413	NM_005901.6(SMAD2):c.997+1G>T	SMAD2	Single nucleotide variant (splice donor variant)	SMAD2-related cardiac disorders	GPathogenic
Select item 2577065	NM_005901.6(SMAD2):c.1135+6G>C	SMAD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2571929	NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu)	SMAD2 (P429L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2566862	NM_005901.6(SMAD2):c.531A>G (p.Pro177=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2566861	NM_005901.6(SMAD2):c.6G>A (p.Ser2=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2566860	NM_005901.6(SMAD2):c.732C>G (p.Gly244=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2566858	NM_005901.6(SMAD2):c.1137C>T (p.Gly379=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2566857	NM_005901.6(SMAD2):c.1131A>C (p.Pro377=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2507171	NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)	SMAD2 (R120* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2505610	NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly)	SMAD2 (S403G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500580	NM_005901.6(SMAD2):c.447C>G (p.Cys149Trp)	SMAD2 (C119W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2452586	NM_005901.6(SMAD2):c.530C>A (p.Pro177Gln)	SMAD2 (P147Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452585	NM_005901.6(SMAD2):c.1212C>A (p.Ala404=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2452584	NM_005901.6(SMAD2):c.867C>G (p.Thr289=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2452583	NM_005901.6(SMAD2):c.579G>C (p.Leu193=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2452582	NM_005901.6(SMAD2):c.624A>G (p.Ala208=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2452581	NM_005901.6(SMAD2):c.919A>G (p.Asn307Asp)	SMAD2 (N277D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2425435	NC_000018.9:g.(?_45368198)_(45375078_?)del	SMAD2	Deletion	not provided	GUncertain significance
Select item 2425434	NC_000018.9:g.(?_45368198)_(45423127_?)del	SMAD2	Deletion	not provided	GUncertain significance
Select item 2420070	NM_005901.6(SMAD2):c.1110T>C (p.Pro370=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2142775	NM_005901.6(SMAD2):c.999A>G (p.Gly333=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2127304	NM_005901.6(SMAD2):c.1014A>T (p.Leu338Phe)	SMAD2 (L338F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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