7399[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 1297792	NM_206933.4(USH2A):c.*243G>T	USH2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227419	NM_206933.4(USH2A):c.*49A>C	USH2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 166410	NM_206933.4(USH2A):c.*4A>G	USH2A	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 2070888	NM_206933.4(USH2A):c.15606G>T (p.Leu5202=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090538	NM_206933.4(USH2A):c.15606G>C (p.Leu5202=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911438	NM_206933.4(USH2A):c.15604C>T (p.Leu5202=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103234	NM_206933.4(USH2A):c.15603C>T (p.His5201=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1051232	NM_206933.4(USH2A):c.15601C>A (p.His5201Asn)	USH2A (H5201N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136107	NM_206933.4(USH2A):c.15600C>T (p.Thr5200=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361979	NM_206933.4(USH2A):c.15599C>A (p.Thr5200Asn)	USH2A (T5200N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081267	NM_206933.4(USH2A):c.15597C>T (p.Asp5199=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727099	NM_206933.4(USH2A):c.15588A>G (p.Thr5196=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350571	NM_206933.4(USH2A):c.15584C>G (p.Thr5195Ser)	USH2A (T5195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2482240	NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala)	USH2A (T5195A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011559	NM_206933.4(USH2A):c.15582C>T (p.Arg5194=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 440394	NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu)	USH2A (R5194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 179824	NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)	USH2A (R5194H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 1217401	NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)	USH2A (R5194C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2419696	NM_206933.4(USH2A):c.15576_15579del (p.Lys5192fs)	USH2A (K5192fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 553718	NM_206933.4(USH2A):c.15577del (p.Glu5193fs)	USH2A (E5193fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 553657	NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)	USH2A (E5193*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 1358771	NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)	USH2A (K5192M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 2584892	NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu)	USH2A (K5192E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GUncertain significance
Select item 1103123	NM_206933.4(USH2A):c.15567A>G (p.Ser5189=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127371	NM_206933.4(USH2A):c.15564C>T (p.Ser5188=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045970	NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)	USH2A (S5188T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48468	NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)	USH2A (S5188G)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 2338494	NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)	USH2A (F5187I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1139154	NM_206933.4(USH2A):c.15555G>A (p.Lys5185=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957278	NM_206933.4(USH2A):c.15554A>G (p.Lys5185Arg)	USH2A (K5185R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448973	NM_206933.4(USH2A):c.15552C>G (p.Ile5184Met)	USH2A (I5184M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067080	NM_206933.4(USH2A):c.15548C>T (p.Ala5183Val)	USH2A (A5183V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969763	NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)	USH2A (A5183T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 179122	NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 1930885	NM_206933.4(USH2A):c.15545A>C (p.Asn5182Thr)	USH2A (N5182T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987781	NM_206933.4(USH2A):c.15543G>C (p.Met5181Ile)	USH2A (M5181I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1091820	NM_206933.4(USH2A):c.15534G>A (p.Glu5178=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980295	NM_206933.4(USH2A):c.15528T>C (p.Asp5176=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504962	NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)	USH2A (D5176N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 48467	NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign
Select item 287641	NM_206933.4(USH2A):c.15520-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GUncertain significance
Select item 1575540	NM_206933.4(USH2A):c.15520-4dup	USH2A	Duplication (intron variant)	not provided	GBenign
Select item 1085240	NM_206933.4(USH2A):c.15520-7T>G	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1397104	NM_206933.4(USH2A):c.15520-8T>G	USH2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1956917	NM_206933.4(USH2A):c.15520-10T>C	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880391	NM_206933.4(USH2A):c.15520-16T>C	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247741	NM_206933.4(USH2A):c.15520-194A>T	USH2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238532	NM_206933.4(USH2A):c.15519+23G>A	USH2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1392672	NM_206933.4(USH2A):c.15519+20C>G	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080093	NM_206933.4(USH2A):c.15519+9G>C	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103771	NM_206933.4(USH2A):c.15519+8G>A	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1152711	NM_206933.4(USH2A):c.15519+7T>C	USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909165	NM_206933.4(USH2A):c.15519+3G>A	USH2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3028629	NM_206933.4(USH2A):c.15519+1dup	USH2A	Duplication (splice donor variant)	Retinal dystrophy	GUncertain significance
Select item 2034389	NM_206933.4(USH2A):c.15516A>G (p.Gly5172=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122872	NM_206933.4(USH2A):c.15510C>T (p.Asn5170=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036495	NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)	USH2A (H5169R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48466	NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile)	USH2A (M5167I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1490276	NM_206933.4(USH2A):c.15499A>C (p.Met5167Leu)	USH2A (M5167L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961793	NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)	USH2A (M5167V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2132922	NM_206933.4(USH2A):c.15498C>T (p.Ile5166=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960591	NM_206933.4(USH2A):c.15496A>T (p.Ile5166Phe)	USH2A (I5166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48465	NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	USH2A (I5166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 282144	NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)	USH2A (A5165G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 2838125	NM_206933.4(USH2A):c.15492A>G (p.Glu5164=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105467	NM_206933.4(USH2A):c.15483A>G (p.Ser5161=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796797	NM_206933.4(USH2A):c.15480C>T (p.Asn5160=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163016	NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)	USH2A (N5160S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1959818	NM_206933.4(USH2A):c.15479del (p.Asn5160fs)	USH2A (N5160fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1135565	NM_206933.4(USH2A):c.15471G>A (p.Leu5157=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153826	NM_206933.4(USH2A):c.15469T>C (p.Leu5157=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094259	NM_206933.4(USH2A):c.15468C>T (p.Val5156=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329072	NM_206933.4(USH2A):c.15465dup (p.Val5156fs)	USH2A (V5156fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1354411	NM_206933.4(USH2A):c.15465del (p.Val5156fs)	USH2A (V5156fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2148576	NM_206933.4(USH2A):c.15463A>G (p.Lys5155Glu)	USH2A (K5155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382945	NM_206933.4(USH2A):c.15458A>G (p.Asp5153Gly)	USH2A (D5153G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098202	NM_206933.4(USH2A):c.15450C>T (p.Asp5150=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827908	NM_206933.4(USH2A):c.15444C>T (p.Leu5148=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155689	NM_206933.4(USH2A):c.15440_15443dup (p.Met5149fs)	USH2A (M5149fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2029221	NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)	USH2A (Q5147*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1592886	NM_206933.4(USH2A):c.15438C>T (p.Ser5146=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849503	NM_206933.4(USH2A):c.15435C>T (p.Val5145=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 793968	NM_206933.4(USH2A):c.15432C>T (p.Ser5144=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48463	NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)	USH2A (R5143H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 178568	NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	USH2A (R5143C)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1914159	NM_206933.4(USH2A):c.15426C>T (p.His5142=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426246	NM_206933.4(USH2A):c.15416G>A (p.Gly5139Asp)	USH2A (G5139D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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