21653[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 366548	NM_005802.5(TOPORS):c.733_737del	TOPORS	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 915002	NM_005802.5(TOPORS):c.*686T>C	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366549	NM_005802.5(TOPORS):c.*647dup	TOPORS	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 915003	NM_005802.5(TOPORS):c.*640T>A	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366550	NM_005802.5(TOPORS):c.*506A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 915004	NM_005802.5(TOPORS):c.*430A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 915005	NM_005802.5(TOPORS):c.*371T>C	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366551	NM_005802.5(TOPORS):c.*362del	TOPORS	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 913046	NM_005802.5(TOPORS):c.*358T>C	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 913047	NM_005802.5(TOPORS):c.*350A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366552	NM_005802.5(TOPORS):c.*341T>C	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 913048	NM_005802.5(TOPORS):c.*309G>A	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 913049	NM_005802.5(TOPORS):c.*308C>T	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 913050	NM_005802.5(TOPORS):c.*300A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 366553	NM_005802.5(TOPORS):c.*139dup	TOPORS	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 366554	NM_005802.5(TOPORS):c.*139del	TOPORS	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 366555	NM_005802.5(TOPORS):c.*117A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366556	NM_005802.5(TOPORS):c.*100C>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366557	NM_005802.5(TOPORS):c.*47A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 913414	NM_005802.5(TOPORS):c.*24A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 366558	NM_005802.5(TOPORS):c.*9A>G	TOPORS	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 1449765	NM_005802.5(TOPORS):c.3136T>A (p.Ter1046Lys)	TOPORS	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 940703	NM_005802.5(TOPORS):c.3126_3127del (p.Cys1042_Asp1043delinsTer)	TOPORS	Microsatellite (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712568	NM_005802.5(TOPORS):c.3108A>G (p.Val1036=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998815	NM_005802.5(TOPORS):c.3093A>T (p.Thr1031=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748580	NM_005802.5(TOPORS):c.3093A>C (p.Thr1031=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624357	NM_005802.5(TOPORS):c.3090dup (p.Thr1031fs)	TOPORS (T966fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3028139	NM_005802.5(TOPORS):c.3089G>A (p.Arg1030Gln)	TOPORS (R1030Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 1499193	NM_005802.5(TOPORS):c.3088C>T (p.Arg1030Trp)	TOPORS (R1030W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941452	NM_005802.5(TOPORS):c.3084G>T (p.Ser1028=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084021	NM_005802.5(TOPORS):c.3084G>A (p.Ser1028=)	TOPORS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 2070105	NM_005802.5(TOPORS):c.3083C>T (p.Ser1028Leu)	TOPORS (S1028L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028140	NM_005802.5(TOPORS):c.3075A>G (p.Gln1025=)	TOPORS	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 866852	NM_005802.5(TOPORS):c.3068C>T (p.Ser1023Leu)	TOPORS (S958L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1486410	NM_005802.5(TOPORS):c.3064C>T (p.Pro1022Ser)	TOPORS (P1022S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 851375	NM_005802.5(TOPORS):c.3055C>G (p.Gln1019Glu)	TOPORS (Q1019E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1055962	NM_005802.5(TOPORS):c.3052C>T (p.Leu1018Phe)	TOPORS (L1018F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 839772	NM_005802.5(TOPORS):c.3050C>G (p.Ser1017Cys)	TOPORS (S1017C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845266	NM_005802.5(TOPORS):c.3047T>C (p.Val1016Ala)	TOPORS (V1016A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3257255	NM_005802.5(TOPORS):c.3045T>C (p.Ile1015=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281558	NM_005802.5(TOPORS):c.3040A>G (p.Asn1014Asp)	TOPORS (N1014D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913415	NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn)	TOPORS (S1013N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2009347	NM_005802.5(TOPORS):c.3036C>T (p.Pro1012=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353350	NM_005802.5(TOPORS):c.3036del (p.Ser1013fs)	TOPORS (S948fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1018532	NM_005802.5(TOPORS):c.3034C>A (p.Pro1012Thr)	TOPORS (P1012T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008510	NM_005802.5(TOPORS):c.3031C>T (p.Gln1011Ter)	TOPORS (Q1011* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 748450	NM_005802.5(TOPORS):c.3030C>T (p.Asn1010=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525864	NM_005802.5(TOPORS):c.3029A>G (p.Asn1010Ser)	TOPORS (N1010S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514369	NM_005802.5(TOPORS):c.3022_3029del (p.Leu1008fs)	TOPORS (L1008fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1168598	NM_005802.5(TOPORS):c.3005G>A (p.Ser1002Asn)	TOPORS (S1002N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1924551	NM_005802.5(TOPORS):c.3003G>C (p.Glu1001Asp)	TOPORS (E1001D +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1952910	NM_005802.5(TOPORS):c.3000A>G (p.Glu1000=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694124	NM_005802.5(TOPORS):c.2999A>G (p.Glu1000Gly)	TOPORS (E1000G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489321	NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter)	TOPORS (R999* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1043427	NM_005802.5(TOPORS):c.2992G>C (p.Val998Leu)	TOPORS (V933L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95315	NM_005802.5(TOPORS):c.2991T>C (p.Asp997=)	TOPORS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2983512	NM_005802.5(TOPORS):c.2987_2988del (p.Leu996fs)	TOPORS (L931fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 366559	NM_005802.5(TOPORS):c.2988C>T (p.Leu996=)	TOPORS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 2117574	NM_005802.5(TOPORS):c.2973A>G (p.Ser991=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 366560	NM_005802.5(TOPORS):c.2967A>G (p.Ala989=)	TOPORS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 1477056	NM_005802.5(TOPORS):c.2965G>T (p.Ala989Ser)	TOPORS (A989S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043368	NM_005802.5(TOPORS):c.2956C>A (p.Pro986Thr)	TOPORS (P921T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397992	NM_005802.5(TOPORS):c.2942C>T (p.Thr981Ile)	TOPORS (T916I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803533	NM_005802.5(TOPORS):c.2938A>G (p.Lys980Glu)	TOPORS (K980E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025879	NM_005802.5(TOPORS):c.2927A>G (p.Asn976Ser)	TOPORS (N911S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761579	NM_005802.5(TOPORS):c.2917A>G (p.Asn973Asp)	TOPORS (N908D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979859	NM_005802.5(TOPORS):c.2903T>C (p.Ile968Thr)	TOPORS (I903T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802477	NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)	TOPORS (C966fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1106772	NM_005802.5(TOPORS):c.2892G>A (p.Lys964=)	TOPORS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385029	NM_005802.5(TOPORS):c.2890A>G (p.Lys964Glu)	TOPORS (K964E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096491	NM_005802.5(TOPORS):c.2882T>A (p.Val961Glu)	TOPORS (V961E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855146	NM_005802.5(TOPORS):c.2881G>A (p.Val961Met)	TOPORS (V896M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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