ClinVar for Gene (Select 147495) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306369	NM_153000.5(APCDD1):c.736C>T (p.Arg246Trp)	APCDD1 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306359	NM_153000.5(APCDD1):c.743C>T (p.Ser248Phe)	APCDD1 (S248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306348	NM_153000.5(APCDD1):c.432C>G (p.Asp144Glu)	APCDD1 (D144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306337	NM_153000.5(APCDD1):c.170A>T (p.Lys57Ile)	APCDD1 (K57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306326	NM_153000.5(APCDD1):c.1381A>G (p.Met461Val)	APCDD1 (M461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306306	NM_153000.5(APCDD1):c.1048G>A (p.Gly350Ser)	APCDD1 (G350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127778	NM_153000.5(APCDD1):c.941T>C (p.Ile314Thr)	APCDD1 (I314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127777	NM_153000.5(APCDD1):c.913G>A (p.Glu305Lys)	APCDD1 (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127776	NM_153000.5(APCDD1):c.907C>T (p.Arg303Cys)	APCDD1 (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127775	NM_153000.5(APCDD1):c.812A>G (p.Tyr271Cys)	APCDD1 (Y271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127774	NM_153000.5(APCDD1):c.709A>G (p.Thr237Ala)	APCDD1 (T237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127773	NM_153000.5(APCDD1):c.674A>C (p.His225Pro)	APCDD1 (H225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127772	NM_153000.5(APCDD1):c.574G>C (p.Glu192Gln)	APCDD1 (E192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127771	NM_153000.5(APCDD1):c.499G>A (p.Val167Met)	APCDD1 (V167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127770	NM_153000.5(APCDD1):c.392G>A (p.Arg131His)	APCDD1 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127769	NM_153000.5(APCDD1):c.385C>T (p.Arg129Cys)	APCDD1 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127768	NM_153000.5(APCDD1):c.1412C>T (p.Pro471Leu)	APCDD1 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127767	NM_153000.5(APCDD1):c.1301G>A (p.Arg434His)	APCDD1 (R434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127766	NM_153000.5(APCDD1):c.1291G>A (p.Ala431Thr)	APCDD1 (A431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127765	NM_153000.5(APCDD1):c.1150G>A (p.Val384Ile)	APCDD1 (V384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3050927	NM_153000.5(APCDD1):c.574GAG[1] (p.Glu193del)	APCDD1 (E193del)	Microsatellite	APCDD1-related disorder	GLikely benign
Select item 3032456	NM_153000.5(APCDD1):c.228C>T (p.His76=)	APCDD1	Single nucleotide variant (synonymous variant)	APCDD1-related disorder	GLikely benign
Select item 3023180	NM_153000.5(APCDD1):c.1026C>T (p.Tyr342=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015405	NM_153000.5(APCDD1):c.531C>T (p.Asp177=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962624	NM_153000.5(APCDD1):c.506G>A (p.Arg169His)	APCDD1 (R169H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2915233	NM_153000.5(APCDD1):c.1410G>A (p.Ser470=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907747	NM_153000.5(APCDD1):c.739C>T (p.Pro247Ser)	APCDD1 (P247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900977	NM_153000.5(APCDD1):c.481G>A (p.Glu161Lys)	APCDD1 (E161K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884810	NM_153000.5(APCDD1):c.1058C>T (p.Ser353Leu)	APCDD1 (S353L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2813197	NM_153000.5(APCDD1):c.242G>A (p.Gly81Asp)	APCDD1 (G81D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796919	NM_153000.5(APCDD1):c.1196G>C (p.Gly399Ala)	APCDD1 (G399A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756032	NM_153000.5(APCDD1):c.1500A>C (p.Ala500=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2722547	NM_153000.5(APCDD1):c.1259C>T (p.Thr420Met)	APCDD1 (T420M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2702328	NM_153000.5(APCDD1):c.1050C>T (p.Gly350=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2698605	NM_153000.5(APCDD1):c.510A>G (p.Thr170=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684865	GRCh37/hg19 18p11.22(chr18:9609466-10792750)x3	APCDD1, NAPG +5 more	Copy number gain	not provided	GUncertain significance
Select item 2611922	NM_153000.5(APCDD1):c.688C>G (p.Leu230Val)	APCDD1 (L230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603242	NM_153000.5(APCDD1):c.341G>A (p.Arg114Gln)	APCDD1 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597567	NM_153000.5(APCDD1):c.802C>G (p.Arg268Gly)	APCDD1 (R268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590879	NM_153000.5(APCDD1):c.79C>T (p.Leu27Phe)	APCDD1 (L27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590674	NM_153000.5(APCDD1):c.1177G>A (p.Glu393Lys)	APCDD1 (E393K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2532994	NM_153000.5(APCDD1):c.754C>G (p.Pro252Ala)	APCDD1 (P252A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2529783	NM_153000.5(APCDD1):c.718A>G (p.Thr240Ala)	APCDD1 (T240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520197	NM_153000.5(APCDD1):c.1287G>C (p.Gln429His)	APCDD1 (Q429H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517983	NM_153000.5(APCDD1):c.515C>T (p.Pro172Leu)	APCDD1 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471803	NM_153000.5(APCDD1):c.422C>T (p.Thr141Met)	APCDD1 (T141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460540	NM_153000.5(APCDD1):c.583G>A (p.Gly195Ser)	APCDD1 (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2428119	NM_153000.5(APCDD1):c.1176C>T (p.Ala392=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426533	NC_000018.9:g.(?_10454979)_(12725530_?)del	AFG3L2, ANKRD62 +14 more	Deletion	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2373647	NM_153000.5(APCDD1):c.1295G>A (p.Arg432Gln)	APCDD1 (R432Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373472	NM_153000.5(APCDD1):c.505C>T (p.Arg169Cys)	APCDD1 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369155	NM_153000.5(APCDD1):c.815G>A (p.Arg272Gln)	APCDD1 (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365544	NM_153000.5(APCDD1):c.526G>A (p.Ala176Thr)	APCDD1 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358506	NM_153000.5(APCDD1):c.532G>A (p.Gly178Arg)	APCDD1 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347251	NM_153000.5(APCDD1):c.1484C>G (p.Ser495Cys)	APCDD1 (S495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343255	NM_153000.5(APCDD1):c.1127C>T (p.Ala376Val)	APCDD1 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267759	NM_153000.5(APCDD1):c.1027G>A (p.Ala343Thr)	APCDD1 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250570	NM_153000.5(APCDD1):c.1477A>G (p.Thr493Ala)	APCDD1 (T493A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247765	NM_153000.5(APCDD1):c.1195G>A (p.Gly399Ser)	APCDD1 (G399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241678	NM_153000.5(APCDD1):c.1037G>A (p.Arg346His)	APCDD1 (R346H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238308	NM_153000.5(APCDD1):c.195C>G (p.Ile65Met)	APCDD1 (I65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231033	NM_153000.5(APCDD1):c.1030C>T (p.Arg344Trp)	APCDD1 (R344W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222837	NM_153000.5(APCDD1):c.793A>G (p.Ile265Val)	APCDD1 (I265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205388	NM_153000.5(APCDD1):c.10C>T (p.Pro4Ser)	APCDD1 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184704	NM_153000.5(APCDD1):c.22C>G (p.Leu8Val)	APCDD1 (L8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168707	NM_153000.5(APCDD1):c.1262A>T (p.Glu421Val)	APCDD1 (E421V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2148074	NM_153000.5(APCDD1):c.877G>A (p.Gly293Arg)	APCDD1 (G293R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2118167	NM_153000.5(APCDD1):c.243-5C>T	APCDD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075453	NM_153000.5(APCDD1):c.1332C>A (p.Ser444Arg)	APCDD1 (S444R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2073513	NM_153000.5(APCDD1):c.1046G>A (p.Arg349His)	APCDD1 (R349H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2068858	NM_153000.5(APCDD1):c.1230C>T (p.Cys410=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062965	NM_153000.5(APCDD1):c.1460G>A (p.Arg487Gln)	APCDD1 (R487Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2061411	NM_153000.5(APCDD1):c.1335C>T (p.Asp445=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056883	NM_153000.5(APCDD1):c.865A>G (p.Ile289Val)	APCDD1 (I289V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2055476	NM_153000.5(APCDD1):c.750C>T (p.Tyr250=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2051047	NM_153000.5(APCDD1):c.1051G>A (p.Val351Ile)	APCDD1 (V351I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2046512	NM_153000.5(APCDD1):c.189A>C (p.Ala63=)	APCDD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2044096	NM_153000.5(APCDD1):c.863C>T (p.Thr288Ile)	APCDD1 (T288I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987560	NM_153000.5(APCDD1):c.774+16G>A	APCDD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962604	NM_153000.5(APCDD1):c.1337G>A (p.Gly446Glu)	APCDD1 (G446E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808799	GRCh37/hg19 18p11.22-11.21(chr18:10344636-11185412)x1	APCDD1, NAPG +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1706491	GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1	MPPE1, NAPG +11 more	Copy number loss	See cases	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526603	GRCh37/hg19 18p11.22-11.21(chr18:10343018-11185412)	APCDD1, NAPG +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic

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