9364[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 147370	GRCh38/hg38 4p15.33(chr4:11610765-13822432)x3	BOD1L1, LINC01096 +27 more	Copy number gain	See cases	GUncertain significance
Select item 149143	GRCh38/hg38 4p15.33(chr4:12959891-14417711)x3	BOD1L1, LINC01085 +24 more	Copy number gain	See cases	GUncertain significance
Select item 3150663	NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr)	RAB28 (K195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1280828	NM_001017979.3(RAB28):c.574-34A>G	RAB28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302795	NM_001017979.3(RAB28):c.574-1104G>A	RAB28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662087	NM_004249.4(RAB28):c.663G>A (p.Ter221=)	RAB28	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2077873	NM_004249.4(RAB28):c.659A>G (p.Gln220Arg)	RAB28 (Q220R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 940790	NM_004249.4(RAB28):c.655G>A (p.Val219Ile)	RAB28 (V219I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047389	NM_004249.4(RAB28):c.653_654delinsAT (p.Ser218Tyr)	RAB28 (S218Y)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1975688	NM_004249.4(RAB28):c.651T>C (p.Cys217=)	RAB28	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 225879	NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)	RAB28 (C217W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1024780	NM_004249.4(RAB28):c.650del (p.Cys217fs)	RAB28 (C217fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 958836	NM_004249.4(RAB28):c.640A>G (p.Ser214Gly)	RAB28 (S214G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487309	NM_004249.4(RAB28):c.638dup (p.Ser214fs)	RAB28 (S214fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2887748	NM_004249.4(RAB28):c.634A>G (p.Thr212Ala)	RAB28 (T212A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366857	NM_004249.4(RAB28):c.629C>T (p.Thr210Ile)	RAB28 (T210I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 947182	NM_004249.4(RAB28):c.620A>G (p.Gln207Arg)	RAB28 (Q207R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093933	NM_004249.4(RAB28):c.603_615del (p.Lys200_Tyr201insTer)	RAB28	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 1475605	NM_004249.4(RAB28):c.614A>G (p.Glu205Gly)	RAB28 (E205G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 933988	NM_004249.4(RAB28):c.607G>T (p.Glu203Ter)	RAB28 (E203*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1919403	NM_004249.4(RAB28):c.606G>A (p.Pro202=)	RAB28	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 968424	NM_004249.4(RAB28):c.605C>T (p.Pro202Leu)	RAB28 (P202L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134230	NM_004249.4(RAB28):c.600G>A (p.Lys200=)	RAB28	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1360793	NM_004249.4(RAB28):c.586G>A (p.Ala196Thr)	RAB28 (A196T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817972	NM_004249.4(RAB28):c.585G>A (p.Arg195=)	RAB28	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2123484	NM_004249.4(RAB28):c.583A>G (p.Arg195Gly)	RAB28 (R195G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 789172	NM_004249.4(RAB28):c.579T>C (p.Ile193=)	RAB28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1507360	NM_004249.4(RAB28):c.575G>A (p.Arg192His)	RAB28 (R192H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1000165	NM_004249.4(RAB28):c.574C>T (p.Arg192Cys)	RAB28 (R192C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953562	NM_004249.4(RAB28):c.574-1G>A	RAB28	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1660845	NM_001017979.3(RAB28):c.574-1330G>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899634	NM_001017979.3(RAB28):c.574-1331T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266046	NM_001017979.3(RAB28):c.574-1360del	RAB28	Deletion (intron variant)	not provided	GBenign
Select item 3035465	NM_001017979.3(RAB28):c.574-3173G>A	RAB28	Single nucleotide variant (3 prime UTR variant +1 more)	RAB28-related disorder	GBenign
Select item 1257957	NM_001017979.3(RAB28):c.574-3309G>A	RAB28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661936	NM_001017979.3(RAB28):c.573+12G>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1062405	NM_001017979.3(RAB28):c.572A>G (p.Gln191Arg)	RAB28 (Q191R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116018	NM_001017979.3(RAB28):c.567G>A (p.Gln189=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 60754	NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter)	RAB28 (Q189*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 18	GPathogenic
Select item 1481177	NM_001017979.3(RAB28):c.549_552del (p.Asn183fs)	RAB28 (N183fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 282613	NM_001017979.3(RAB28):c.551_552del (p.Lys184fs)	RAB28 (K184fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2811404	NM_001017979.3(RAB28):c.544T>C (p.Leu182=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463919	NM_001017979.3(RAB28):c.538A>C (p.Ile180Leu)	RAB28 (I180L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2007958	NM_001017979.3(RAB28):c.536G>A (p.Gly179Glu)	RAB28 (G179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609208	NM_001017979.3(RAB28):c.532C>G (p.Leu178Val)	RAB28 (L178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1375135	NM_001017979.3(RAB28):c.532C>T (p.Leu178Phe)	RAB28 (L178F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854790	NM_001017979.3(RAB28):c.527A>G (p.Glu176Gly)	RAB28 (E176G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976892	NM_001017979.3(RAB28):c.522T>C (p.Ala174=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484922	NM_001017979.3(RAB28):c.516A>G (p.Lys172=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866668	NM_001017979.3(RAB28):c.502del (p.Leu168fs)	RAB28 (L168fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1135529	NM_001017979.3(RAB28):c.496-5T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674587	NM_001017979.3(RAB28):c.496-6A>G	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666877	NM_001017979.3(RAB28):c.496-6A>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967338	NM_001017979.3(RAB28):c.496-12T>A	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665340	NM_001017979.3(RAB28):c.496-17C>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1394441	NM_001017979.3(RAB28):c.494C>G (p.Ser165Cys)	RAB28 (S165C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621640	NM_001017979.3(RAB28):c.474C>G (p.Val158=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150662	NM_001017979.3(RAB28):c.472G>A (p.Val158Ile)	RAB28 (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2122106	NM_001017979.3(RAB28):c.465C>G (p.Ser155Arg)	RAB28 (S155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188952	NM_001017979.3(RAB28):c.461G>A (p.Ser154Asn)	RAB28 (S154N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002097	NM_001017979.3(RAB28):c.455G>A (p.Gly152Asp)	RAB28 (G152D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521507	NM_001017979.3(RAB28):c.451A>G (p.Asn151Asp)	RAB28 (N151D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967879	NM_001017979.3(RAB28):c.441T>C (p.Phe147=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403941	NM_001017979.3(RAB28):c.436C>T (p.Arg146Trp)	RAB28 (R146W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001199	NM_001017979.3(RAB28):c.435dup (p.Arg146fs)	RAB28 (R146fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2337442	NM_001017979.3(RAB28):c.433T>G (p.Leu145Val)	RAB28 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577489	NM_001017979.3(RAB28):c.430C>T (p.His144Tyr)	RAB28 (H144Y)	Single nucleotide variant (missense variant)	Cone dystrophy	GLikely pathogenic
Select item 1521015	NM_001017979.3(RAB28):c.410G>A (p.Arg137Gln)	RAB28 (R137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60755	NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)	RAB28 (R137*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 18 +1 more	GPathogenic
Select item 1356782	NM_001017979.3(RAB28):c.403C>T (p.His135Tyr)	RAB28 (H135Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006075	NM_001017979.3(RAB28):c.395A>T (p.Asp132Val)	RAB28 (D132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015251	NM_001017979.3(RAB28):c.394G>T (p.Asp132Tyr)	RAB28 (D132Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498980	NM_001017979.3(RAB28):c.392-5T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 865912	NM_001017979.3(RAB28):c.392-9C>G	RAB28	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 1555202	NM_001017979.3(RAB28):c.392-11C>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165079	NM_001017979.3(RAB28):c.392-19T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210854	NM_001017979.3(RAB28):c.391+33A>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548340	NM_001017979.3(RAB28):c.391+18G>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign

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