ClinVar for Gene (Select 120) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342942	NM_016824.5(ADD3):c.253C>A (p.Pro85Thr)	ADD3 (P7T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338237	NM_016824.5(ADD3):c.133C>A (p.Leu45Ile)	ADD3 (L45I)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 3	GBenign
Select item 3270048	NM_016824.5(ADD3):c.505C>A (p.Gln169Lys)	ADD3 (Q169K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270040	NM_016824.5(ADD3):c.268G>A (p.Ala90Thr)	ADD3 (A90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270011	NM_016824.5(ADD3):c.482T>C (p.Ile161Thr)	ADD3 (I83T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270000	NM_016824.5(ADD3):c.688A>C (p.Ile230Leu)	ADD3 (I152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253131	NM_016824.5(ADD3):c.1421C>T (p.Ser474Leu)	ADD3 (S396L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082931	NM_016824.5(ADD3):c.851C>G (p.Pro284Arg)	ADD3 (P206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082922	NM_016824.5(ADD3):c.776A>T (p.Asp259Val)	ADD3 (D181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082916	NM_016824.5(ADD3):c.719T>C (p.Val240Ala)	ADD3 (V162A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082909	NM_016824.5(ADD3):c.640A>G (p.Ser214Gly)	ADD3 (S136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082887	NM_016824.5(ADD3):c.2001A>C (p.Lys667Asn)	ADD3 (K667N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082873	NM_016824.5(ADD3):c.1763C>G (p.Ala588Gly)	ADD3 (A510G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082851	NM_016824.5(ADD3):c.1175C>G (p.Pro392Arg)	ADD3 (P392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3051218	NM_016824.5(ADD3):c.1560A>G (p.Gly520=)	ADD3	Single nucleotide variant (synonymous variant)	ADD3-related disorder	GLikely benign
Select item 3016258	NM_016824.5(ADD3):c.1974C>T (p.Ile658=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015972	NM_016824.5(ADD3):c.15C>T (p.Ala5=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998983	NM_016824.5(ADD3):c.256A>G (p.Thr86Ala)	ADD3 (T8A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2978139	NM_016824.5(ADD3):c.1761C>T (p.Asp587=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973486	NM_016824.5(ADD3):c.1609-14T>G	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966356	NM_016824.5(ADD3):c.1829-6T>C	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960759	NM_016824.5(ADD3):c.1608+14G>C	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921286	NM_016824.5(ADD3):c.[1588G>A;86A>G]	ADD3 (N29S +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 3	GPathogenic
Select item 2891723	NM_016824.5(ADD3):c.1869_1870inv (p.Glu623_Val624delinsAspLeu)	ADD3	Inversion (missense variant)	not provided	GLikely benign
Select item 2890159	NM_016824.5(ADD3):c.1809T>C (p.Asn603=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886663	NM_016824.5(ADD3):c.1078T>G (p.Ser360Ala)	ADD3 (S282A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875811	NM_016824.5(ADD3):c.132T>C (p.Asp44=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845949	NM_016824.5(ADD3):c.961-7A>T	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818502	NM_016824.5(ADD3):c.508G>T (p.Asp170Tyr)	ADD3 (D92Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812332	NM_016824.5(ADD3):c.42T>G (p.Pro14=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786128	NM_016824.5(ADD3):c.487-14G>A	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775622	NM_016824.5(ADD3):c.1884A>G (p.Val628=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712957	NM_016824.5(ADD3):c.1588G>A (p.Val530Ile)	ADD3 (V530I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701157	NM_016824.5(ADD3):c.1401+17T>C	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694125	NM_016824.5(ADD3):c.2004C>T (p.Ile668=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2662524	NM_016824.5(ADD3):c.533G>A (p.Gly178Asp)	ADD3 (G100D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640823	NC_000010.11:g.110151580C>T	ADD3, LOC105378479	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2612378	NM_016824.5(ADD3):c.17G>T (p.Ser6Ile)	ADD3 (S6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599376	NM_016824.5(ADD3):c.1750C>G (p.Leu584Val)	ADD3 (L584V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589612	NM_016824.5(ADD3):c.379A>G (p.Thr127Ala)	ADD3 (T127A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2560179	NM_016824.5(ADD3):c.416G>A (p.Cys139Tyr)	ADD3 (C139Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531939	NM_016824.5(ADD3):c.2014C>G (p.Leu672Val)	ADD3 (L640V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497927	NM_016824.5(ADD3):c.1130C>T (p.Thr377Ile)	ADD3 (T299I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497763	NM_016824.5(ADD3):c.1142T>C (p.Leu381Ser)	ADD3 (L303S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493353	NM_016824.5(ADD3):c.170G>A (p.Arg57Gln)	ADD3 (R57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483412	NM_016824.5(ADD3):c.1700G>C (p.Arg567Thr)	ADD3 (R489T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466619	NM_016824.5(ADD3):c.1049C>T (p.Ala350Val)	ADD3 (A272V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466187	NM_016824.5(ADD3):c.1160A>G (p.Tyr387Cys)	ADD3 (Y309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442634	NM_016824.5(ADD3):c.1741C>G (p.Gln581Glu)	ADD3 (Q503E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425354	NC_000010.10:g.(?_111860412)_(112839579_?)dup	ADD3, ADRA2A +8 more	Duplication	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2420651	NM_016824.5(ADD3):c.655A>G (p.Ile219Val)	ADD3 (I141V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420031	NM_016824.5(ADD3):c.1300C>T (p.Arg434Cys)	ADD3 (R356C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415141	NM_016824.5(ADD3):c.1906C>T (p.His636Tyr)	ADD3 (H558Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2415130	NM_016824.5(ADD3):c.121A>G (p.Met41Val)	ADD3 (M41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413265	NM_016824.5(ADD3):c.1733-1G>A	ADD3	Single nucleotide variant (splice acceptor variant +1 more)	not specified +1 more	GUncertain significance
Select item 2385194	NM_016824.5(ADD3):c.1703C>T (p.Thr568Ile)	ADD3 (T568I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377459	NM_016824.5(ADD3):c.781G>T (p.Ala261Ser)	ADD3 (A261S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328874	NM_016824.5(ADD3):c.914A>G (p.Glu305Gly)	ADD3 (E305G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221616	NM_016824.5(ADD3):c.1634A>G (p.His545Arg)	ADD3 (H467R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210536	NM_016824.5(ADD3):c.70T>G (p.Tyr24Asp)	ADD3 (Y24D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2189496	NM_016824.5(ADD3):c.2004C>A (p.Ile668=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2188671	NM_016824.5(ADD3):c.1760A>G (p.Asp587Gly)	ADD3 (D509G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177683	NM_016824.5(ADD3):c.1802C>T (p.Pro601Leu)	ADD3 (P523L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132599	NM_016824.5(ADD3):c.592G>A (p.Val198Met)	ADD3 (V198M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129022	NM_016824.5(ADD3):c.2068C>T (p.Arg690Cys)	ADD3 (R612C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096463	NM_016824.5(ADD3):c.1426A>G (p.Lys476Glu)	ADD3 (K398E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095148	NM_016824.5(ADD3):c.195+18G>A	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087720	NM_016824.5(ADD3):c.1225A>C (p.Thr409Pro)	ADD3 (T331P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082911	NM_016824.5(ADD3):c.1401G>A (p.Thr467=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2081001	NM_016824.5(ADD3):c.21A>C (p.Gln7His)	ADD3 (Q7H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080950	NM_016824.5(ADD3):c.572A>C (p.Lys191Thr)	ADD3 (K113T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075893	NM_016824.5(ADD3):c.312G>A (p.Ser104=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074683	NM_016824.5(ADD3):c.514A>T (p.Ile172Phe)	ADD3 (I94F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070947	NM_016824.5(ADD3):c.207A>G (p.Glu69=)	ADD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069392	NM_016824.5(ADD3):c.791A>T (p.Asp264Val)	ADD3 (D186V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056336	NM_016824.5(ADD3):c.1829-4G>A	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042872	NM_016824.5(ADD3):c.718-3T>C	ADD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2036001	NM_016824.5(ADD3):c.1690G>A (p.Glu564Lys)	ADD3 (E486K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028595	NM_016824.5(ADD3):c.1615C>T (p.Gln539Ter)	ADD3 (Q461* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2003413	NM_016824.5(ADD3):c.854G>A (p.Ser285Asn)	ADD3 (S207N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003284	NM_016824.5(ADD3):c.1309A>G (p.Thr437Ala)	ADD3 (T359A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993812	NM_016824.5(ADD3):c.416G>C (p.Cys139Ser)	ADD3 (C139S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991292	NM_016824.5(ADD3):c.2026G>A (p.Gly676Ser)	ADD3 (G644S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985322	NM_016824.5(ADD3):c.406C>T (p.Leu136Phe)	ADD3 (L58F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1980197	NM_016824.5(ADD3):c.1162G>C (p.Ala388Pro)	ADD3 (A388P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957983	NM_016824.5(ADD3):c.1907A>C (p.His636Pro)	ADD3 (H604P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955849	NM_016824.5(ADD3):c.335-11del	ADD3	Deletion (intron variant)	not provided	GBenign
Select item 1950911	NM_016824.5(ADD3):c.1993C>T (p.Pro665Ser)	ADD3 (P587S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947159	NM_016824.5(ADD3):c.934A>G (p.Asn312Asp)	ADD3 (N312D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1931503	NM_016824.5(ADD3):c.377A>G (p.Asp126Gly)	ADD3 (D126G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930473	NM_016824.5(ADD3):c.1542T>C (p.Tyr514=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922105	NM_016824.5(ADD3):c.1724G>A (p.Gly575Asp)	ADD3 (G575D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918034	NM_016824.5(ADD3):c.961-13C>A	ADD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914701	NM_016824.5(ADD3):c.1929T>C (p.Ala643=)	ADD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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