ClinVar for Gene (Select 63976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370063	NM_022114.4(PRDM16):c.745AAG[1] (p.Lys250del)	PRDM16 (K250del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3366983	NM_022114.4(PRDM16):c.3376_3396del (p.Leu1126_Asp1132del)	PRDM16	Deletion (inframe_deletion)	Left ventricular noncompaction 8	GUncertain significance
Select item 3359826	NM_022114.4(PRDM16):c.220A>G (p.Ile74Val)	PRDM16 (I74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352416	NM_022114.4(PRDM16):c.2662C>G (p.Arg888Gly)	PRDM16 (R888G)	Single nucleotide variant (missense variant)	PRDM16-related disorder	GUncertain significance
Select item 3352080	NM_022114.4(PRDM16):c.1251C>T (p.Ala417=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder	GLikely benign
Select item 3340802	NM_022114.4(PRDM16):c.559C>T (p.Gln187Ter)	PRDM16 (Q187*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337495	NM_022114.4(PRDM16):c.3766G>A (p.Ala1256Thr)	PRDM16 (A1237T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337494	NM_022114.4(PRDM16):c.976C>T (p.Arg326Cys)	PRDM16 (R326C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336933	NM_022114.4(PRDM16):c.5G>C (p.Arg2Pro)	LOC124903827, PRDM16 (R2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309777	NM_022114.4(PRDM16):c.55A>G (p.Asn19Asp)	PRDM16 (N19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309776	NM_022114.4(PRDM16):c.2129G>A (p.Gly710Glu)	PRDM16 (G710E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309775	NM_022114.4(PRDM16):c.3296A>C (p.Gln1099Pro)	PRDM16 (Q1099P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309774	NM_022114.4(PRDM16):c.1391C>A (p.Thr464Asn)	PRDM16 (T464N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309772	NM_022114.4(PRDM16):c.3323C>G (p.Pro1108Arg)	PRDM16 (P1108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247829	NC_000001.10:g.(?_3102669)_(3348724_?)dup	PRDM16	Duplication	Left ventricular noncompaction 8	GUncertain significance
Select item 3247828	NC_000001.10:g.(?_3102669)_(3350375_?)del	PRDM16	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 3247827	NC_000001.10:g.(?_3335211)_(3350375_?)del	PRDM16	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3234801	NM_022114.4(PRDM16):c.479C>T (p.Ala160Val)	PRDM16 (A160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3218401	NM_022114.4(PRDM16):c.3335G>A (p.Ser1112Asn)	PRDM16 (S1112N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218400	NM_022114.4(PRDM16):c.3323C>T (p.Pro1108Leu)	PRDM16 (P1108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218399	NM_022114.4(PRDM16):c.3229A>G (p.Arg1077Gly)	PRDM16 (R1077G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218398	NM_022114.4(PRDM16):c.2915C>T (p.Thr972Met)	PRDM16 (T972M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218397	NM_022114.4(PRDM16):c.2751C>A (p.Asp917Glu)	PRDM16 (D917E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218396	NM_022114.4(PRDM16):c.2479G>A (p.Val827Ile)	PRDM16 (V827I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3218395	NM_022114.4(PRDM16):c.1894G>C (p.Asp632His)	PRDM16 (D632H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068524	NM_022114.4(PRDM16):c.2742G>A (p.Met914Ile)	PRDM16 (M914I)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3067574	NM_022114.4(PRDM16):c.2988G>T (p.Arg996=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062115	NM_022114.4(PRDM16):c.2134C>T (p.Gln712Ter)	PRDM16 (Q712*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 8	GLikely pathogenic
Select item 3057987	NM_022114.4(PRDM16):c.1725C>G (p.Pro575=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder	GLikely benign
Select item 3048344	NM_022114.4(PRDM16):c.3480G>A (p.Glu1160=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related disorder	GLikely benign
Select item 3021651	NM_022114.4(PRDM16):c.416C>A (p.Pro139His)	PRDM16 (P139H)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3021052	NM_022114.4(PRDM16):c.1088C>T (p.Ala363Val)	PRDM16 (A363V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3017370	NM_022114.4(PRDM16):c.1085G>A (p.Gly362Asp)	PRDM16 (G362D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3017330	NM_022114.4(PRDM16):c.2596A>T (p.Ile866Phe)	PRDM16 (I866F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3016558	NM_022114.4(PRDM16):c.3676T>C (p.Cys1226Arg)	PRDM16 (C1226R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3015731	NM_022114.4(PRDM16):c.438+16C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 3014585	NM_022114.4(PRDM16):c.1386C>G (p.Pro462=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 3007646	NM_022114.4(PRDM16):c.3680G>A (p.Arg1227Lys)	PRDM16 (R1227K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 3006004	NM_022114.4(PRDM16):c.3703G>A (p.Ala1235Thr)	PRDM16 (A1235T)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 8	GUncertain significance
Select item 3003202	NM_022114.4(PRDM16):c.2361C>T (p.Pro787=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2988847	NM_022114.4(PRDM16):c.1108G>A (p.Asp370Asn)	PRDM16 (D370N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2986772	NM_022114.4(PRDM16):c.438+12C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2985691	NM_022114.4(PRDM16):c.1738G>C (p.Glu580Gln)	PRDM16 (E580Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2984602	NM_022114.4(PRDM16):c.648C>T (p.Pro216=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2983996	NM_022114.4(PRDM16):c.1968G>A (p.Pro656=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2980788	NM_022114.4(PRDM16):c.884G>A (p.Ser295Asn)	PRDM16 (S295N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2980333	NM_022114.4(PRDM16):c.1677C>A (p.Val559=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2978913	NM_022114.4(PRDM16):c.1032+5C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2977170	NM_022114.4(PRDM16):c.1033-14A>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2973215	NM_022114.4(PRDM16):c.2939+14G>C	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2971432	NM_022114.4(PRDM16):c.931T>C (p.Cys311Arg)	PRDM16 (C311R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2969780	NM_022114.4(PRDM16):c.2976G>C (p.Ser992=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2969291	NM_022114.4(PRDM16):c.3696+16A>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2964044	NM_022114.4(PRDM16):c.573+11G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2959988	NM_022114.4(PRDM16):c.1881C>T (p.Ser627=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2921101	NM_022114.4(PRDM16):c.60T>C (p.Asn20=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918726	NM_022114.4(PRDM16):c.2802_2804del (p.Pro937del)	PRDM16 (P937del)	Deletion (inframe_deletion)	Left ventricular noncompaction 8	GUncertain significance
Select item 2912989	NM_022114.4(PRDM16):c.388-18C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2911875	NM_022114.4(PRDM16):c.481A>C (p.Asn161His)	PRDM16 (N161H)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2910834	NM_022114.4(PRDM16):c.1032+12G>C	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2910729	NM_022114.4(PRDM16):c.1681G>A (p.Ala561Thr)	PRDM16 (A561T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2904561	NM_022114.4(PRDM16):c.3623T>C (p.Val1208Ala)	PRDM16 (V1208A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2903481	NM_022114.4(PRDM16):c.1885G>A (p.Val629Met)	PRDM16 (V629M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2903099	NM_022114.4(PRDM16):c.583A>G (p.Lys195Glu)	PRDM16 (K195E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2902240	NM_022114.4(PRDM16):c.2378C>T (p.Ser793Leu)	PRDM16 (S793L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2900661	NM_022114.4(PRDM16):c.1967C>T (p.Pro656Leu)	PRDM16 (P656L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2900508	NM_022114.4(PRDM16):c.1866C>T (p.Gly622=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2899336	NM_022114.4(PRDM16):c.2016C>G (p.His672Gln)	PRDM16 (H672Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2898514	NM_022114.4(PRDM16):c.1906G>A (p.Asp636Asn)	PRDM16 (D636N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2897722	NM_022114.4(PRDM16):c.1541T>C (p.Phe514Ser)	PRDM16 (F514S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2897165	NM_022114.4(PRDM16):c.3441C>T (p.Pro1147=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2893605	NM_022114.4(PRDM16):c.2360C>T (p.Pro787Leu)	PRDM16 (P787L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2893574	NM_022114.4(PRDM16):c.3435C>T (p.Pro1145=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2892762	NM_022114.4(PRDM16):c.1865G>A (p.Gly622Asp)	PRDM16 (G622D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2891338	NM_022114.4(PRDM16):c.2171C>T (p.Ala724Val)	PRDM16 (A724V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2887535	NM_022114.4(PRDM16):c.2848C>T (p.Arg950Ter)	PRDM16 (R950*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 8	GUncertain significance
Select item 2886098	NM_022114.4(PRDM16):c.574-20C>G	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2885080	NM_022114.4(PRDM16):c.3354GGA[5] (p.Glu1121_Asp1122insGlu)	PRDM16	Microsatellite (inframe_insertion)	Left ventricular noncompaction 8	GUncertain significance
Select item 2884297	NM_022114.4(PRDM16):c.1302T>C (p.Thr434=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2876719	NM_022114.4(PRDM16):c.2692-9T>C	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2876180	NM_022114.4(PRDM16):c.1971G>T (p.Gly657=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2874312	NM_022114.4(PRDM16):c.930A>G (p.Lys310=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2873877	NM_022114.4(PRDM16):c.497G>A (p.Gly166Asp)	PRDM16 (G166D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2871527	NM_022114.4(PRDM16):c.3622G>T (p.Val1208Phe)	PRDM16 (V1208F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2871311	NM_022114.4(PRDM16):c.1272G>A (p.Lys424=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2870720	NM_022114.4(PRDM16):c.1797G>C (p.Ser599=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2866784	NM_022114.4(PRDM16):c.1496_1497del (p.Pro499fs)	PRDM16 (P499fs)	Deletion (frameshift variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2862208	NM_022114.4(PRDM16):c.2336C>G (p.Pro779Arg)	PRDM16 (P779R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2857541	NM_022114.4(PRDM16):c.2975C>T (p.Ser992Leu)	PRDM16 (S992L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2851175	NM_022114.4(PRDM16):c.1033-11C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2847592	NM_022114.4(PRDM16):c.523G>A (p.Ala175Thr)	PRDM16 (A175T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2833894	NM_022114.4(PRDM16):c.2870G>A (p.Gly957Glu)	PRDM16 (G957E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2817847	NM_022114.4(PRDM16):c.1032+21_1032+66del	PRDM16	Deletion (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2817673	NM_022114.4(PRDM16):c.2175C>A (p.Phe725Leu)	PRDM16 (F725L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2808232	NM_022114.4(PRDM16):c.884+33_884+94dup	PRDM16	Duplication (intron variant)	Left ventricular noncompaction 8	GLikely benign

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