ClinVar for Gene (Select 115795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3277664	NM_001164839.2(FANCD2OS):c.455G>A (p.Cys152Tyr)	FANCD2OS (C152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277662	NM_001018115.3(FANCD2):c.3388T>C (p.Cys1130Arg)	FANCD2, FANCD2OS (C1093R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3246813	NC_000003.11:g.(?_10131956)_(10132089_?)del	FANCD2, FANCD2OS	Deletion	Fanconi anemia	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3241580	NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)	FANCD2, FANCD2OS (Q1068* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241571	NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)	FANCD2, FANCD2OS (Q1312* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241568	NM_001018115.3(FANCD2):c.3335+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241566	NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)	FANCD2, FANCD2OS (Q1043* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241560	NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)	FANCD2, FANCD2OS (R1281* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3092803	NM_001164839.2(FANCD2OS):c.483G>C (p.Leu161Phe)	FANCD2OS (L161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092802	NM_001164839.2(FANCD2OS):c.463A>C (p.Met155Leu)	FANCD2OS (M155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092801	NM_001164839.2(FANCD2OS):c.395G>C (p.Arg132Thr)	FANCD2OS (R132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092799	NM_001164839.2(FANCD2OS):c.370T>C (p.Ser124Pro)	FANCD2OS (S124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092798	NM_001164839.2(FANCD2OS):c.361T>C (p.Ser121Pro)	FANCD2OS (S121P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092797	NM_001164839.2(FANCD2OS):c.154T>C (p.Phe52Leu)	FANCD2OS (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092795	NM_001018115.3(FANCD2):c.3172A>G (p.Met1058Val)	FANCD2, FANCD2OS (M1021V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067631	NM_001018115.3(FANCD2):c.3991T>C (p.Phe1331Leu)	FANCD2, FANCD2OS (F1294L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065349	NM_173472.2(FANCD2OS):c.*44-6935A>C	FANCD2, FANCD2OS (F1125V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3055184	NM_001018115.3(FANCD2):c.*10A>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	FANCD2-related disorder	GLikely benign
Select item 3053522	NM_173472.2(FANCD2OS):c.*44-7425C>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	FANCD2OS-related disorder	GLikely benign
Select item 3027066	NM_001018115.3(FANCD2):c.3753T>C (p.Pro1251=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023388	NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019858	NM_001018115.3(FANCD2):c.4281+96T>C	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019813	NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3015859	NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)	FANCD2, FANCD2OS (K1154E +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3014724	NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3013309	NM_001018115.3(FANCD2):c.3225-9C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3011638	NM_001018115.3(FANCD2):c.3106-15C>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 3009629	NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3002791	NM_001018115.3(FANCD2):c.3849+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2999712	NM_001018115.3(FANCD2):c.3963+15C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2996454	NM_001018115.3(FANCD2):c.3467-12_3467-10del	FANCD2, FANCD2OS	Microsatellite (intron variant)	Fanconi anemia	GLikely benign
Select item 2983969	NM_001018115.3(FANCD2):c.3889-1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2983569	NM_001018115.3(FANCD2):c.3225-4T>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2977304	NM_001018115.3(FANCD2):c.3684-10C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2974545	NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2968925	NM_001018115.3(FANCD2):c.4038+10_4038+11dup	FANCD2, FANCD2OS	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2964225	NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2962997	NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2957812	NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2956984	NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2954766	NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)	FANCD2, FANCD2OS (R1379W +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2920031	NM_001018115.3(FANCD2):c.4185+12A>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2919579	NM_001018115.3(FANCD2):c.3106-15C>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2917642	NM_001018115.3(FANCD2):c.4039-2A>G	FANCD2, FANCD2OS	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2916538	NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2915625	NM_001018115.3(FANCD2):c.3889-16T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2915200	NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)	FANCD2, FANCD2OS (V1311I +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2915091	NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2914280	NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2914214	NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2913569	NM_001018115.3(FANCD2):c.4186-12A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2911000	NM_001018115.3(FANCD2):c.4038+2T>G	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2910077	NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2909824	NM_001018115.3(FANCD2):c.3336-10C>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906773	NM_001018115.3(FANCD2):c.3225-16A>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906630	NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2906162	NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2902435	NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)	FANCD2, FANCD2OS (L1107V +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2901920	NM_001018115.3(FANCD2):c.3225-10A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2901849	NM_001018115.3(FANCD2):c.3888+18C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2901589	NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2900844	NM_001018115.3(FANCD2):c.3561-13A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2900422	NM_001018115.3(FANCD2):c.3335+16A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2899830	NM_001018115.3(FANCD2):c.4281+111A>G	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2898679	NM_001018115.3(FANCD2):c.3106-13T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2898285	NM_001018115.3(FANCD2):c.3224+7A>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2893864	NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2893797	NM_001018115.3(FANCD2):c.3336-8C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2892396	NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2889561	NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)	FANCD2, FANCD2OS (W1167fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2888480	NM_001018115.3(FANCD2):c.3683+17C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2888464	NM_001018115.3(FANCD2):c.3224+10T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2887988	NM_001018115.3(FANCD2):c.3225-17T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2886794	NM_001018115.3(FANCD2):c.3850-10A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2886543	NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)	FANCD2, FANCD2OS (F1288fs +2 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2886234	NM_001018115.3(FANCD2):c.3889-8T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2874943	NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2873150	NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2872805	NM_001018115.3(FANCD2):c.3224+8T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2866000	NM_001018115.3(FANCD2):c.3683+12C>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2864269	NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)	FANCD2OS, FANCD2 (P1044fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2862938	NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2857045	NM_001018115.3(FANCD2):c.3963+10A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2855820	NM_001018115.3(FANCD2):c.4186-11T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2854154	NM_001018115.3(FANCD2):c.3889-20_3889-19del	FANCD2, FANCD2OS	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2852327	NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2850584	NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2850432	NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)	FANCD2, FANCD2OS (P1251fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2848266	NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2847548	NM_001018115.3(FANCD2):c.4038+12A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2845558	NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)	FANCD2, FANCD2OS (Q1342* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia	GPathogenic
Select item 2840689	NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2831939	NM_001018115.3(FANCD2):c.4186-16G>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2829602	NM_001018115.3(FANCD2):c.3335+11A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign

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