1258[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 369117	NM_001297.4(CNGB1):c.*1837delA	CNGB1	Deletion	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369118	NM_001297.4(CNGB1):c.*1828A>T	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369119	NM_001297.4(CNGB1):c.*1827T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369120	NM_001297.4(CNGB1):c.*1826T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369121	NM_001297.4(CNGB1):c.*1825T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 885982	NM_001297.5(CNGB1):c.*1810T>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 885983	NM_001297.5(CNGB1):c.*1800C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886976	NM_001297.5(CNGB1):c.*1741T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886977	NM_001297.5(CNGB1):c.*1680T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886978	NM_001297.5(CNGB1):c.*1676A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886979	NM_001297.5(CNGB1):c.*1671A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 886980	NM_001297.5(CNGB1):c.*1637C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320020	NM_001297.5(CNGB1):c.*1606G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320021	NM_001297.5(CNGB1):c.*1544T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886981	NM_001297.5(CNGB1):c.*1518T>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 888244	NM_001297.5(CNGB1):c.*1508C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320022	NM_001297.5(CNGB1):c.*1462A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 320023	NM_001297.5(CNGB1):c.*1429T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320024	NM_001297.5(CNGB1):c.1363_1364dup	CNGB1	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 320025	NM_001297.5(CNGB1):c.*1364del	CNGB1	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 320026	NM_001297.5(CNGB1):c.*1351del	CNGB1	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 320027	NM_001297.5(CNGB1):c.*1292A>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 320028	NM_001297.5(CNGB1):c.*1233T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 320029	NM_001297.5(CNGB1):c.*1228C>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 320030	NM_001297.5(CNGB1):c.*1149G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 888245	NM_001297.5(CNGB1):c.*1148C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 885138	NM_001297.5(CNGB1):c.*1085A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320031	NM_001297.5(CNGB1):c.*1018A>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 885139	NM_001297.5(CNGB1):c.*980C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320032	NM_001297.5(CNGB1):c.*967C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 885140	NM_001297.5(CNGB1):c.*954T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320033	NM_001297.5(CNGB1):c.*919G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 320034	NM_001297.5(CNGB1):c.*918C>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 320035	NM_001297.5(CNGB1):c.*900AAAG[1]	CNGB1	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 320036	NM_001297.5(CNGB1):c.*887CAAA[1]	CNGB1	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 320037	NM_001297.5(CNGB1):c.*882G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886045	NM_001297.5(CNGB1):c.*837C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320038	NM_001297.5(CNGB1):c.*836C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 320039	NM_001297.5(CNGB1):c.*820G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320040	NM_001297.5(CNGB1):c.738_747del	CNGB1	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 320041	NM_001297.5(CNGB1):c.*730C>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320042	NM_001297.5(CNGB1):c.*720A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 886046	NM_001297.5(CNGB1):c.*675G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 320043	NM_001297.5(CNGB1):c.*611G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320044	NM_001297.5(CNGB1):c.*601G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 887037	NM_001297.5(CNGB1):c.*595C>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 320045	NM_001297.5(CNGB1):c.*493C>T	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 887038	NM_001297.5(CNGB1):c.*451G>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 887039	NM_001297.5(CNGB1):c.*321G>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320046	NM_001297.5(CNGB1):c.*310T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 320047	NM_001297.5(CNGB1):c.*281T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 887040	NM_001297.5(CNGB1):c.*264T>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320048	NM_001297.5(CNGB1):c.*244A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 320049	NM_001297.5(CNGB1):c.*235G>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320050	NM_001297.5(CNGB1):c.*228T>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 888308	NM_001297.5(CNGB1):c.*170C>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320051	NM_001297.5(CNGB1):c.*116G>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320052	NM_001297.5(CNGB1):c.*111T>C	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 888309	NM_001297.5(CNGB1):c.*70C>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 320053	NM_001297.5(CNGB1):c.*33A>G	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 888310	NM_001297.5(CNGB1):c.*24C>A	CNGB1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 960269	NM_001297.5(CNGB1):c.3751G>C (p.Glu1251Gln)	CNGB1 (E1245Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096413	NM_001297.5(CNGB1):c.3750G>A (p.Ala1250=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355244	NM_001297.5(CNGB1):c.3743A>C (p.Glu1248Ala)	CNGB1 (E1242A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136915	NM_001297.5(CNGB1):c.3729G>A (p.Pro1243=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936257	NM_001297.5(CNGB1):c.3728C>T (p.Pro1243Leu)	CNGB1 (P1243L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 885205	NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg)	CNGB1 (P1243R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 3028370	NM_001297.5(CNGB1):c.3717G>A (p.Ser1239=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1133553	NM_001297.5(CNGB1):c.3717G>C (p.Ser1239=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 320054	NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2105095	NM_001297.5(CNGB1):c.3713T>C (p.Leu1238Pro)	CNGB1 (L1238P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521036	NM_001297.5(CNGB1):c.3712C>G (p.Leu1238Val)	CNGB1 (L1232V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028371	NM_001297.5(CNGB1):c.3710T>C (p.Ile1237Thr)	CNGB1 (I1231T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1524072	NM_001297.5(CNGB1):c.3704A>G (p.Glu1235Gly)	CNGB1 (E1229G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1645281	NM_001297.5(CNGB1):c.3693G>C (p.Pro1231=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1096172	NM_001297.5(CNGB1):c.3693G>A (p.Pro1231=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028372	NM_001297.5(CNGB1):c.3692C>A (p.Pro1231Gln)	CNGB1 (P1225Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 862980	NM_001297.5(CNGB1):c.3692C>T (p.Pro1231Leu)	CNGB1 (P1225L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499792	NM_001297.5(CNGB1):c.3689del (p.Gly1230fs)	CNGB1 (G1224fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1132303	NM_001297.5(CNGB1):c.3687G>A (p.Pro1229=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 848584	NM_001297.5(CNGB1):c.3686C>T (p.Pro1229Leu)	CNGB1 (P1223L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389367	NM_001297.5(CNGB1):c.3683G>T (p.Ser1228Ile)	CNGB1 (S1228I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994623	NM_001297.5(CNGB1):c.3681G>A (p.Met1227Ile)	CNGB1 (M1221I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028373	NM_001297.5(CNGB1):c.3678C>A (p.Cys1226Ter)	CNGB1 (C1220* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GUncertain significance
Select item 1938932	NM_001297.5(CNGB1):c.3674T>A (p.Ile1225Asn)	CNGB1 (I1219N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941187	NM_001297.5(CNGB1):c.3671G>T (p.Arg1224Met)	CNGB1 (R1218M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201964	NM_001297.5(CNGB1):c.3665C>T (p.Ser1222Leu)	CNGB1 (S1222L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490653	NM_001297.5(CNGB1):c.3664T>A (p.Ser1222Thr)	CNGB1 (S1216T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048324	NM_001297.5(CNGB1):c.3662A>G (p.His1221Arg)	CNGB1 (H1215R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715098	NM_001297.5(CNGB1):c.3655G>C (p.Glu1219Gln)	CNGB1 (E1213Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960516	NM_001297.5(CNGB1):c.3654C>T (p.Pro1218=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984213	NM_001297.5(CNGB1):c.3654C>G (p.Pro1218=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908386	NM_001297.5(CNGB1):c.3653C>A (p.Pro1218His)	CNGB1 (P1218H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143571	NM_001297.5(CNGB1):c.3648C>G (p.Ala1216=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494872	NM_001297.5(CNGB1):c.3643C>A (p.Pro1215Thr)	CNGB1 (P1209T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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