94137[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 150794	GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3	C8orf74, CRE3 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 361185	NM_178857.6(RP1L1):c.*513G>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361186	NM_178857.6(RP1L1):c.*495G>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361187	NM_178857.6(RP1L1):c.*461T>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 361188	NM_178857.6(RP1L1):c.*444T>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 910865	NM_178857.6(RP1L1):c.*441A>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 912084	NM_178857.6(RP1L1):c.*367C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361189	NM_178857.6(RP1L1):c.*356C>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361190	NM_178857.6(RP1L1):c.*335T>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy +1 more	GBenign
Select item 912085	NM_178857.6(RP1L1):c.*332G>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361191	NM_178857.6(RP1L1):c.*330T>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy +1 more	GBenign
Select item 361192	NM_178857.6(RP1L1):c.*307T>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 912086	NM_178857.6(RP1L1):c.*291C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361193	NM_178857.6(RP1L1):c.*266C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361194	NM_178857.6(RP1L1):c.*265G>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 908077	NM_178857.6(RP1L1):c.*256G>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361195	NM_178857.6(RP1L1):c.*244C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy +1 more	GBenign
Select item 361196	NM_178857.6(RP1L1):c.*226G>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 361197	NM_178857.6(RP1L1):c.*200G>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361198	NM_178857.6(RP1L1):c.*199C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 908078	NM_178857.6(RP1L1):c.*191C>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 908079	NM_178857.6(RP1L1):c.*122G>C	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361199	NM_178857.6(RP1L1):c.*99C>A	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GUncertain significance
Select item 361200	NM_178857.6(RP1L1):c.*98C>T	RP1L1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 361201	NM_178857.6(RP1L1):c.*38C>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 361202	NM_178857.6(RP1L1):c.*27del	RP1L1	Deletion (3 prime UTR variant)	Occult macular dystrophy	GBenign
Select item 3027937	NM_178857.6(RP1L1):c.*1A>G	RP1L1	Single nucleotide variant (3 prime UTR variant)	Retinal dystrophy	GUncertain significance
Select item 3027938	NM_178857.6(RP1L1):c.7203G>C (p.Ter2401Tyr)	RP1L1	Single nucleotide variant (stop lost)	Retinal dystrophy	GUncertain significance
Select item 3027939	NM_178857.6(RP1L1):c.7191C>G (p.Asp2397Glu)	RP1L1 (D2397E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2207142	NM_178857.6(RP1L1):c.7188T>A (p.Asp2396Glu)	RP1L1 (D2396E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555082	NM_178857.6(RP1L1):c.7159G>A (p.Val2387Met)	RP1L1 (V2387M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374782	NM_178857.6(RP1L1):c.7151C>A (p.Thr2384Asn)	RP1L1 (T2384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 910031	NM_178857.6(RP1L1):c.7149C>A (p.Pro2383=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy	GUncertain significance
Select item 3155879	NM_178857.6(RP1L1):c.7144G>A (p.Ala2382Thr)	RP1L1 (A2382T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 910032	NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2208882	NM_178857.6(RP1L1):c.7140T>A (p.Ser2380Arg)	RP1L1 (S2380R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027941	NM_178857.6(RP1L1):c.7132C>T (p.Leu2378Phe)	RP1L1 (L2378F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3155878	NM_178857.6(RP1L1):c.7126C>G (p.Gln2376Glu)	RP1L1 (Q2376E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632017	NM_178857.6(RP1L1):c.7117C>T (p.Gln2373Ter)	RP1L1 (Q2373*)	Single nucleotide variant (nonsense)	Occult macular dystrophy	GUncertain significance
Select item 910033	NM_178857.6(RP1L1):c.7097C>T (p.Ala2366Val)	RP1L1 (A2366V)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GLikely benign
Select item 2411605	NM_178857.6(RP1L1):c.7079G>A (p.Arg2360Lys)	RP1L1 (R2360K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543236	NM_178857.6(RP1L1):c.7075T>G (p.Ser2359Ala)	RP1L1 (S2359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155877	NM_178857.6(RP1L1):c.7067C>T (p.Pro2356Leu)	RP1L1 (P2356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 361203	NM_178857.6(RP1L1):c.7062G>C (p.Glu2354Asp)	RP1L1 (E2354D)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance

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