CN169374[trait identifier] AND "Clinical Genetics, Academic Medical Ce - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228319	NM_022114.4(PRDM16):c.-14C>A	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 227038	NM_022114.4(PRDM16):c.38-15C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 229168	NM_022114.4(PRDM16):c.38-14G>A	PRDM16	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 474437	NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)	PRDM16 (V17I)	Single nucleotide variant (missense variant)	PRDM16-related disorder +2 more	GLikely benign
Select item 227857	NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)	PRDM16 (A34T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 241420	NM_022114.4(PRDM16):c.142G>A (p.Val48Met)	PRDM16 (V48M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +4 more	GBenign/Likely benign
Select item 227864	NM_022114.4(PRDM16):c.201G>A (p.Pro67=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 968062	NM_022114.4(PRDM16):c.342G>A (p.Val114=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227039	NM_022114.4(PRDM16):c.387+6C>T	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 227041	NM_022114.4(PRDM16):c.444C>T (p.Ser148=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 510034	NM_022114.4(PRDM16):c.573+17A>G	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 422807	NM_022114.4(PRDM16):c.574-20_574-17del	PRDM16	Microsatellite (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227042	NM_022114.4(PRDM16):c.627C>T (p.His209=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 1254435	NM_022114.4(PRDM16):c.677-16_677-11dup	PRDM16	Duplication (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 381208	NM_022114.4(PRDM16):c.677-16G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 227874	NM_022114.4(PRDM16):c.714C>A (p.Leu238=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 227043	NM_022114.4(PRDM16):c.783C>T (p.Tyr261=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +3 more	GBenign
Select item 509360	NM_022114.4(PRDM16):c.801G>A (p.Glu267=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 541392	NM_022114.4(PRDM16):c.843C>T (p.His281=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 514875	NM_022114.4(PRDM16):c.884+7C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 413870	NM_022114.4(PRDM16):c.885-4G>A	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 698738	NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)	PRDM16 (D312N)	Single nucleotide variant (missense variant)	PRDM16-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 221025	NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 229156	NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)	PRDM16 (A365S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GConflicting classifications of pathogenicity
Select item 227022	NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 229157	NM_022114.4(PRDM16):c.1187-10G>C	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GConflicting classifications of pathogenicity
Select item 474402	NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder +2 more	GBenign
Select item 227023	NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 701999	NM_022114.4(PRDM16):c.1359G>A (p.Pro453=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227025	NM_022114.4(PRDM16):c.1518G>A (p.Thr506=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 241421	NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)	PRDM16 (G513S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 227026	NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)	PRDM16 (S533P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 241422	NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1122589	NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder +1 more	GLikely benign
Select item 474409	NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227862	NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)	PRDM16 (V562I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 241423	NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227027	NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)	PRDM16 (P633L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 700431	NM_022114.4(PRDM16):c.1926C>T (p.Ser642=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227028	NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 241424	NM_022114.4(PRDM16):c.2130G>A (p.Gly710=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 413867	NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder +3 more	GBenign/Likely benign
Select item 699250	NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 229162	NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)	PRDM16 (V764M)	Single nucleotide variant (missense variant)	PRDM16-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 413873	NM_022114.4(PRDM16):c.2379G>A (p.Ser793=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 390010	NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 388234	NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 241426	NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)	PRDM16 (G818S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +3 more	GBenign/Likely benign
Select item 227865	NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)	PRDM16 (R823P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 227029	NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 227030	NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)	PRDM16 (G836S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 474421	NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu)	PRDM16 (M847L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 541394	NM_022114.4(PRDM16):c.2603+6C>T	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 381194	NM_022114.4(PRDM16):c.2603+20C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 227866	NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)	PRDM16	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 227031	NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 1284663	NM_022114.4(PRDM16):c.2685C>T (p.His895=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 227032	NM_022114.4(PRDM16):c.2793C>T (p.Asn931=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder +3 more	GBenign
Select item 386315	NM_022114.4(PRDM16):c.2940-17G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 373270	NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn)	PRDM16 (D985N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 241428	NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 227033	NM_022114.4(PRDM16):c.3109+10G>A	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 227869	NM_022114.4(PRDM16):c.3110-4G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227034	NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)	PRDM16 (L1044F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 227035	NM_022114.4(PRDM16):c.3284+15G>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 1284645	NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 60727	NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)	PRDM16 (V1101M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 227036	NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 241431	NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)	PRDM16 (E1207D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +3 more	GConflicting classifications of pathogenicity
Select item 1284772	NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 95686	NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	NPHP4 (F1393L +2 more)	Single nucleotide variant (missense variant +1 more)	NPHP4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 215887	NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260558	NM_015102.5(NPHP4):c.3559-19del	NPHP4	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 95682	NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	NPHP4 (A1110V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 595216	NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 288722	NM_015102.5(NPHP4):c.3168C>T (p.His1056=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 698625	NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 594595	NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 195610	NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)	NPHP4 (S972G +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +4 more	GBenign/Likely benign
Select item 1108848	NM_015102.5(NPHP4):c.2886G>A (p.Thr962=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 194764	NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	NPHP4 (D753N +2 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 194659	NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)	NPHP4 (D656N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GBenign
Select item 235419	NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)	NPHP4 (Q569E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 194411	NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 219984	NM_015102.5(NPHP4):c.1542G>A (p.Pro514=)	NPHP4	Single nucleotide variant (non-coding transcript variant +2 more)	Nephronophthisis 4 +2 more	GBenign/Likely benign
Select item 297819	NM_015102.5(NPHP4):c.1503+10G>A	NPHP4	Single nucleotide variant (intron variant)	NPHP4-related disorder +3 more	GBenign/Likely benign
Select item 215518	NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)	NPHP4 (P497R)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GBenign
Select item 166893	NM_015102.5(NPHP4):c.1442-7C>T	NPHP4	Single nucleotide variant (intron variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 297825	NM_015102.5(NPHP4):c.1120-13G>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 235474	NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr)	NPHP4 (A171T)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 196471	NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)	NPHP4 (F91L)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 220231	NM_015102.5(NPHP4):c.136-4del	NPHP4	Deletion (intron variant)	Renal dysplasia and retinal aplasia +4 more	GBenign/Likely benign
Select item 517052	NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile)	ESPN (T429I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 194979	NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	PLEKHG5 (E723del +2 more)	Microsatellite (inframe_deletion +1 more)	Distal spinal muscular atrophy +4 more	GBenign/Likely benign
Select item 281726	NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 378374	NM_020631.6(PLEKHG5):c.440-6A>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GBenign
Select item 522303	NM_022787.4(NMNAT1):c.115+3A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9 +2 more	GBenign/Likely benign
Select item 1284432	NM_001365951.3(KIF1B):c.20A>T (p.Lys7Met)	LOC129388446, KIF1B (K7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2A1 +6 more	GBenign
Select item 260542	NM_001365951.3(KIF1B):c.720+17C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign

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