JAM3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1249709	NC_000011.10:g.134068835C>G	JAM3	Single nucleotide variant	not provided	GBenign
Select item 1186860	NM_032801.5(JAM3):c.-8C>T	JAM3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 827781	NM_032801.5(JAM3):c.1A>G (p.Met1Val)	JAM3 (M1V)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 931312	NM_032801.5(JAM3):c.2T>A (p.Met1Lys)	JAM3 (M1K)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 41883	NM_032801.5(JAM3):c.2T>G (p.Met1Arg)	JAM3 (M1R)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 2188032	NM_032801.5(JAM3):c.4G>T (p.Ala2Ser)	JAM3 (A2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099545	NM_032801.5(JAM3):c.14G>A (p.Arg5Gln)	JAM3 (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966957	NM_032801.5(JAM3):c.23G>A (p.Arg8Gln)	JAM3 (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935200	NM_032801.5(JAM3):c.40C>T (p.Arg14Trp)	JAM3 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779383	NM_032801.5(JAM3):c.43C>G (p.Leu15Val)	JAM3 (L15V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2271906	NM_032801.5(JAM3):c.76+5G>T	JAM3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1217180	NM_032801.5(JAM3):c.76+201C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231657	NM_032801.5(JAM3):c.76+253C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801418	NM_032801.5(JAM3):c.76+25456_76+25517del	JAM3	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1201266	NM_032801.5(JAM3):c.77-45G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674559	NM_032801.5(JAM3):c.77-17T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073132	NM_032801.5(JAM3):c.77-9C>G	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2205692	NM_032801.5(JAM3):c.113A>G (p.Asn38Ser)	JAM3 (N38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060320	NM_032801.5(JAM3):c.116G>A (p.Arg39Gln)	JAM3 (R39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587832	NM_032801.5(JAM3):c.117A>T (p.Arg39=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915311	NM_032801.5(JAM3):c.142+4_142+7del	JAM3	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 1904997	NM_032801.5(JAM3):c.142+3A>G	JAM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2977955	NM_032801.5(JAM3):c.142+12C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288505	NM_032801.5(JAM3):c.142+49T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302860	NM_032801.5(JAM3):c.142+91del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1252645	NM_032801.5(JAM3):c.142+136G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212267	NM_032801.5(JAM3):c.142+181G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242740	NM_032801.5(JAM3):c.142+231C>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223096	NM_032801.5(JAM3):c.143-256C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261299	NM_032801.5(JAM3):c.143-184G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191926	NM_032801.5(JAM3):c.143-113G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182773	NM_032801.5(JAM3):c.143-64G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715028	NM_032801.5(JAM3):c.143-8C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1630551	NM_032801.5(JAM3):c.143-5G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491785	NM_032801.5(JAM3):c.148G>A (p.Glu50Lys)	JAM3 (E50K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963799	NM_032801.5(JAM3):c.168G>A (p.Thr56=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184385	NM_032801.5(JAM3):c.174G>A (p.Ser58=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327730	NM_032801.5(JAM3):c.179C>T (p.Thr60Ile)	JAM3 (T60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872565	NM_032801.5(JAM3):c.230_231del (p.Tyr77fs)	JAM3 (Y77fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2664218	NM_032801.5(JAM3):c.231del (p.Thr76_Tyr77insTer)	JAM3	Deletion (nonsense)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 2095131	NM_032801.5(JAM3):c.245A>G (p.Asn82Ser)	JAM3 (N82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912326	NM_032801.5(JAM3):c.256+13A>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022608	NM_032801.5(JAM3):c.256+17C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261866	NM_032801.5(JAM3):c.256+57A>G	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266191	NM_032801.5(JAM3):c.256+128del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1278995	NM_032801.5(JAM3):c.256+125_256+129del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1272801	NM_032801.5(JAM3):c.256+173T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993262	NM_032801.5(JAM3):c.256+1260G>C	JAM3	Single nucleotide variant (intron variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 1280479	NM_032801.5(JAM3):c.257-153_257-152del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1190686	NM_032801.5(JAM3):c.257-103G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963138	NM_032801.5(JAM3):c.257-16C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908321	NM_032801.5(JAM3):c.257-15G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970948	NM_032801.5(JAM3):c.257-13G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747918	NM_032801.5(JAM3):c.257-4G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3112200	NM_032801.5(JAM3):c.266C>T (p.Ala89Val)	JAM3 (A89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1103723	NM_032801.5(JAM3):c.267G>A (p.Ala89=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714519	NM_032801.5(JAM3):c.285G>A (p.Leu95=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1521567	NM_032801.5(JAM3):c.290A>C (p.Lys97Thr)	JAM3 (K97T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 41882	NM_032801.5(JAM3):c.346G>A (p.Glu116Lys)	JAM3 (E116K)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 1957603	NM_032801.5(JAM3):c.351C>A (p.Val117=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1701178	NM_032801.5(JAM3):c.358C>T (p.Arg120Ter)	JAM3 (R120*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2091160	NM_032801.5(JAM3):c.367_369del (p.Arg123del)	JAM3 (R123del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2413611	NM_032801.5(JAM3):c.367C>T (p.Arg123Cys)	JAM3 (R123C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1346984	NM_032801.5(JAM3):c.376A>G (p.Ile126Val)	JAM3 (I126V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900367	NM_032801.5(JAM3):c.387T>G (p.Ile129Met)	JAM3 (I129M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2290269	NM_032801.5(JAM3):c.401C>G (p.Thr134Ser)	JAM3 (T134S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2692472	NM_032801.5(JAM3):c.409+5G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878280	NM_032801.5(JAM3):c.409+14C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563080	NM_032801.5(JAM3):c.409+15G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632293	NM_032801.5(JAM3):c.409+18G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174323	NM_032801.5(JAM3):c.409+112G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216822	NM_032801.5(JAM3):c.410-111G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164993	NM_032801.5(JAM3):c.410-14_410-13insCTT	JAM3	Insertion (intron variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome +1 more	GBenign
Select item 518239	NM_032801.5(JAM3):c.410-14_410-13insCT	JAM3	Insertion (intron variant)	not provided +1 more	GBenign
Select item 2074418	NM_032801.5(JAM3):c.410-5dup	JAM3	Duplication (intron variant)	not provided	GBenign
Select item 1968461	NM_032801.5(JAM3):c.410-6C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917166	NM_032801.5(JAM3):c.410-4del	JAM3	Deletion (intron variant)	not provided	GLikely benign
Select item 995567	NM_032801.5(JAM3):c.410-1G>A	JAM3	Single nucleotide variant (splice acceptor variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 3287157	NM_032801.5(JAM3):c.422C>T (p.Thr141Ile)	JAM3 (T90I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112201	NM_032801.5(JAM3):c.424C>A (p.Pro142Thr)	JAM3 (P91T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543332	NM_032801.5(JAM3):c.436G>A (p.Val146Met)	JAM3 (V95M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1913901	NM_032801.5(JAM3):c.438G>A (p.Val146=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715029	NM_032801.5(JAM3):c.441G>A (p.Pro147=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487400	NM_032801.5(JAM3):c.445G>T (p.Ala149Ser)	JAM3 (A149S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781054	NM_032801.5(JAM3):c.449T>C (p.Val150Ala)	JAM3 (V150A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2635655	NM_032801.5(JAM3):c.451C>A (p.Pro151Thr)	JAM3 (P100T +1 more)	Single nucleotide variant (missense variant)	JAM3-related disorder	GUncertain significance
Select item 3112202	NM_032801.5(JAM3):c.461A>C (p.Lys154Thr)	JAM3 (K154T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531983	NM_032801.5(JAM3):c.464T>C (p.Met155Thr)	JAM3 (M155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173162	NM_032801.5(JAM3):c.472C>T (p.Leu158=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662643	NM_032801.5(JAM3):c.498C>T (p.His166=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520911	NM_032801.5(JAM3):c.503G>A (p.Arg168Gln)	JAM3 (R117Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351960	NM_032801.5(JAM3):c.510C>A (p.His170Gln)	JAM3 (H170Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2745861	NM_032801.5(JAM3):c.522T>C (p.Tyr174=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273812	NM_032801.5(JAM3):c.524G>A (p.Arg175His)	JAM3 (R124H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326972	NM_032801.5(JAM3):c.532G>A (p.Val178Ile)	JAM3 (V127I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306825	NM_032801.5(JAM3):c.545C>T (p.Thr182Met)	JAM3 (T182M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1906259	NM_032801.5(JAM3):c.554G>T (p.Arg185Ile)	JAM3 (R134I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3287158	NM_032801.5(JAM3):c.560A>T (p.Asn187Ile)	JAM3 (N136I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322556	NM_032801.5(JAM3):c.560A>G (p.Asn187Ser)	JAM3 (N187S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2124726	NM_032801.5(JAM3):c.572dup (p.Asn192fs)	JAM3 (N141fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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