ClinVar for Gene (Select 8938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260328	NM_001199097.2(BAIAP3):c.1472C>T (p.Thr491Ile)	BAIAP3 (T463I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260327	NM_001199097.2(BAIAP3):c.2084C>T (p.Ser695Phe)	BAIAP3 (S659F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260326	NM_001199097.2(BAIAP3):c.2215T>G (p.Cys739Gly)	BAIAP3 (C711G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260325	NM_001199097.2(BAIAP3):c.2090G>A (p.Arg697Lys)	BAIAP3 (R669K +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3260324	NM_001199097.2(BAIAP3):c.206T>C (p.Leu69Ser)	BAIAP3 (L104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260322	NM_001199097.2(BAIAP3):c.2944C>T (p.Arg982Cys)	BAIAP3 (R1017C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260321	NM_001199097.2(BAIAP3):c.1090G>A (p.Gly364Arg)	BAIAP3 (G328R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260320	NM_001199097.2(BAIAP3):c.2026G>A (p.Ala676Thr)	BAIAP3 (A653T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3260319	NM_001199097.2(BAIAP3):c.2070G>C (p.Glu690Asp)	BAIAP3 (E667D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260318	NM_001199097.2(BAIAP3):c.1823C>T (p.Ala608Val)	BAIAP3 (A580V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260317	NM_001199097.2(BAIAP3):c.616C>T (p.Arg206Cys)	BAIAP3 (R178C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260316	NM_001199097.2(BAIAP3):c.598C>T (p.Arg200Cys)	BAIAP3 (R200C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260315	NM_001199097.2(BAIAP3):c.3284G>A (p.Arg1095Gln)	BAIAP3 (R1059Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257643	NM_001199097.2(BAIAP3):c.-11+965T>C	BAIAP3 (L18P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3243666	NC_000016.9:g.(?_1398579)_(1402009_?)del	BAIAP3, GNPTG +1 more	Deletion	not provided	GPathogenic
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3132928	NM_001199097.2(BAIAP3):c.855G>C (p.Arg285Ser)	BAIAP3 (R320S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132927	NM_001199097.2(BAIAP3):c.727C>G (p.Leu243Val)	BAIAP3 (L220V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132925	NM_001199097.2(BAIAP3):c.310C>G (p.Leu104Val)	BAIAP3 (L139V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132924	NM_001199097.2(BAIAP3):c.309G>A (p.Met103Ile)	BAIAP3 (M138I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132923	NM_001199097.2(BAIAP3):c.3340C>T (p.Arg1114Trp)	BAIAP3 (R1086W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132922	NM_001199097.2(BAIAP3):c.3280G>A (p.Ala1094Thr)	BAIAP3 (A1071T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132921	NM_001199097.2(BAIAP3):c.3205A>G (p.Met1069Val)	BAIAP3 (M1046V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132920	NM_001199097.2(BAIAP3):c.3178C>T (p.Arg1060Cys)	BAIAP3 (R1060C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132919	NM_001199097.2(BAIAP3):c.3167C>T (p.Ala1056Val)	BAIAP3 (A1020V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132918	NM_001199097.2(BAIAP3):c.3016G>C (p.Asp1006His)	BAIAP3 (D1041H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132917	NM_001199097.2(BAIAP3):c.2980G>A (p.Val994Met)	BAIAP3 (V1011M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132916	NM_001199097.2(BAIAP3):c.2945G>A (p.Arg982His)	BAIAP3 (R1017H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132914	NM_001199097.2(BAIAP3):c.2654C>T (p.Ala885Val)	BAIAP3 (A862V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132913	NM_001199097.2(BAIAP3):c.148G>A (p.Val50Met)	BAIAP3 (V50M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132912	NM_001199097.2(BAIAP3):c.2410C>T (p.Arg804Cys)	BAIAP3 (R768C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132911	NM_001199097.2(BAIAP3):c.2363G>C (p.Gly788Ala)	BAIAP3 (G752A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132910	NM_001199097.2(BAIAP3):c.2248C>T (p.Arg750Trp)	BAIAP3 (R727W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132909	NM_001199097.2(BAIAP3):c.2245C>T (p.Leu749Phe)	BAIAP3 (L713F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132908	NM_001199097.2(BAIAP3):c.2213T>C (p.Val738Ala)	BAIAP3 (V702A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132907	NM_001199097.2(BAIAP3):c.2074G>C (p.Val692Leu)	BAIAP3 (V692L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132906	NM_001199097.2(BAIAP3):c.2063C>T (p.Thr688Met)	BAIAP3 (T665M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132905	NM_001199097.2(BAIAP3):c.1885G>C (p.Glu629Gln)	BAIAP3 (E629Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132904	NM_001199097.2(BAIAP3):c.1805G>A (p.Arg602His)	BAIAP3 (R566H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132902	NM_001199097.2(BAIAP3):c.1774G>A (p.Val592Ile)	BAIAP3 (V569I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132901	NM_001199097.2(BAIAP3):c.1714G>A (p.Asp572Asn)	BAIAP3 (D544N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132900	NM_001199097.2(BAIAP3):c.1606G>A (p.Gly536Ser)	BAIAP3 (G553S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132899	NM_001199097.2(BAIAP3):c.1580T>C (p.Met527Thr)	BAIAP3 (M491T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132898	NM_001199097.2(BAIAP3):c.1556G>A (p.Cys519Tyr)	BAIAP3 (C483Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132897	NM_001199097.2(BAIAP3):c.1489C>T (p.His497Tyr)	BAIAP3 (H497Y +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132896	NM_001199097.2(BAIAP3):c.1285C>A (p.Arg429Ser)	BAIAP3 (R393S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132895	NM_001199097.2(BAIAP3):c.1082G>A (p.Ser361Asn)	BAIAP3 (S333N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132894	NM_001199097.2(BAIAP3):c.1010G>C (p.Ser337Thr)	BAIAP3 (S309T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132892	NM_001199097.2(BAIAP3):c.956G>A (p.Arg319Gln)	BAIAP3 (R336Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132891	NM_001199097.2(BAIAP3):c.952G>A (p.Val318Ile)	BAIAP3 (V335I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3052168	NM_001199097.2(BAIAP3):c.891C>T (p.Asn297=)	BAIAP3	Single nucleotide variant (synonymous variant)	BAIAP3-related disorder	GLikely benign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2645895	NM_001199097.2(BAIAP3):c.2387C>T (p.Thr796Met)	BAIAP3 (T760M +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645894	NM_001199097.2(BAIAP3):c.2022C>T (p.Asp674=)	BAIAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2645893	NM_001199097.2(BAIAP3):c.1624G>A (p.Asp542Asn)	BAIAP3 (D506N +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645892	NM_001199097.2(BAIAP3):c.1091G>C (p.Gly364Ala)	BAIAP3 (G328A +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645891	NM_001199097.2(BAIAP3):c.893G>A (p.Gly298Glu)	BAIAP3 (G270E +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645890	NM_001199097.2(BAIAP3):c.122C>T (p.Thr41Met)	BAIAP3 (T41M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2624048	NM_001199097.2(BAIAP3):c.3242G>A (p.Gly1081Glu)	BAIAP3 (G1053E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608000	NM_001199097.2(BAIAP3):c.220G>C (p.Val74Leu)	BAIAP3 (V74L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602887	NM_001199097.2(BAIAP3):c.682G>A (p.Glu228Lys)	BAIAP3 (E228K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601424	NM_001199097.2(BAIAP3):c.-11+996C>G	BAIAP3 (I28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594936	NM_001199097.2(BAIAP3):c.1976C>T (p.Ala659Val)	BAIAP3 (A623V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594594	NM_001199097.2(BAIAP3):c.2557G>A (p.Asp853Asn)	BAIAP3 (D817N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593484	NM_001199097.2(BAIAP3):c.2863C>A (p.Arg955Ser)	BAIAP3 (R919S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552783	NM_001199097.2(BAIAP3):c.1769T>C (p.Val590Ala)	BAIAP3 (V562A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552598	NM_001199097.2(BAIAP3):c.78G>T (p.Glu26Asp)	BAIAP3 (E26D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545778	NM_001199097.2(BAIAP3):c.2912T>G (p.Leu971Arg)	BAIAP3 (L948R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545659	NM_001199097.2(BAIAP3):c.2926T>C (p.Phe976Leu)	BAIAP3 (F948L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529821	NM_001199097.2(BAIAP3):c.1240C>G (p.Leu414Val)	BAIAP3, LOC130058156 (L414V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528619	NM_001199097.2(BAIAP3):c.1664G>A (p.Gly555Glu)	BAIAP3 (G519E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528564	NM_001199097.2(BAIAP3):c.-11+923G>A	BAIAP3 (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523307	NM_001199097.2(BAIAP3):c.3385C>T (p.Arg1129Cys)	BAIAP3 (R1106C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522853	NM_001199097.2(BAIAP3):c.239C>T (p.Ser80Leu)	BAIAP3 (S115L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522480	NM_001199097.2(BAIAP3):c.3182C>T (p.Ala1061Val)	BAIAP3 (A1025V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520487	NM_001199097.2(BAIAP3):c.1988C>T (p.Pro663Leu)	BAIAP3 (P680L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518872	NM_001199097.2(BAIAP3):c.3163G>A (p.Glu1055Lys)	BAIAP3 (E1019K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518672	NM_001199097.2(BAIAP3):c.692G>A (p.Ser231Asn)	BAIAP3 (S203N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514206	NM_001199097.2(BAIAP3):c.1304C>T (p.Thr435Met)	BAIAP3 (T470M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511787	NM_001199097.2(BAIAP3):c.361C>G (p.Pro121Ala)	BAIAP3 (P121A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511196	NM_001199097.2(BAIAP3):c.188G>A (p.Gly63Glu)	BAIAP3 (G63E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509929	NM_001199097.2(BAIAP3):c.3113G>A (p.Arg1038Gln)	BAIAP3 (R1055Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2495213	NM_001199097.2(BAIAP3):c.1013C>T (p.Ala338Val)	BAIAP3 (A310V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487357	NM_001199097.2(BAIAP3):c.2773G>A (p.Ala925Thr)	BAIAP3 (A889T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485719	NM_001199097.2(BAIAP3):c.2864G>A (p.Arg955His)	BAIAP3 (R955H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485075	NM_001199097.2(BAIAP3):c.809C>T (p.Ala270Val)	BAIAP3 (A242V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483912	NM_001199097.2(BAIAP3):c.2075T>G (p.Val692Gly)	BAIAP3 (V656G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475004	NM_001199097.2(BAIAP3):c.3229A>G (p.Asn1077Asp)	BAIAP3 (N1077D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472667	NM_001199097.2(BAIAP3):c.503G>A (p.Arg168His)	BAIAP3 (R168H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471702	NM_001199097.2(BAIAP3):c.-11+926G>T	BAIAP3 (G5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469849	NM_001199097.2(BAIAP3):c.1793G>A (p.Arg598Gln)	BAIAP3 (R570Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467731	NM_001199097.2(BAIAP3):c.2798A>G (p.Glu933Gly)	BAIAP3 (E933G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467584	NM_001199097.2(BAIAP3):c.244G>T (p.Ala82Ser)	BAIAP3 (A82S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465290	NM_001199097.2(BAIAP3):c.2813G>C (p.Gly938Ala)	BAIAP3 (G973A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic

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