ClinVar for Gene (Select 9364) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363160	NM_001017979.3(RAB28):c.247_248dup (p.Tyr84fs)	RAB28 (Y84fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 18	GPathogenic
Select item 3312122	NM_001017979.3(RAB28):c.17A>C (p.Glu6Ala)	LOC111828517, RAB28 (E6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246732	NC_000004.11:g.(?_13371500)_(13546038_?)dup	NKX3-2, RAB28	Duplication	not provided	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 3150662	NM_001017979.3(RAB28):c.472G>A (p.Val158Ile)	RAB28 (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150661	NM_001017979.3(RAB28):c.162A>G (p.Ile54Met)	RAB28 (I54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150660	NM_001017979.3(RAB28):c.115A>G (p.Lys39Glu)	RAB28 (K39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150659	NM_001017979.3(RAB28):c.112G>A (p.Gly38Arg)	RAB28 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148858	GRCh37/hg19 4p15.33(chr4:12662979-15000955)x1	BOD1L1, NKX3-2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3043569	NM_001017979.3(RAB28):c.-9C>T	LOC111828517, RAB28	Single nucleotide variant (5 prime UTR variant)	RAB28-related disorder	GLikely benign
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 3002097	NM_001017979.3(RAB28):c.455G>A (p.Gly152Asp)	RAB28 (G152D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988918	NM_001017979.3(RAB28):c.330G>C (p.Val110=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978417	NM_001017979.3(RAB28):c.366A>G (p.Pro122=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977113	NM_001017979.3(RAB28):c.369G>C (p.Leu123=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976892	NM_001017979.3(RAB28):c.522T>C (p.Ala174=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2874595	NM_001017979.3(RAB28):c.53_54insC (p.Asp20fs)	LOC111828517, RAB28 (D20fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2844023	NM_001017979.3(RAB28):c.75+7C>T	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824127	NM_001017979.3(RAB28):c.148T>C (p.Phe50Leu)	RAB28 (F50L)	Single nucleotide variant (missense variant)	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 2811404	NM_001017979.3(RAB28):c.544T>C (p.Leu182=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791959	NM_001017979.3(RAB28):c.90G>A (p.Thr30=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772471	NM_001017979.3(RAB28):c.234del (p.Met78fs)	RAB28 (M78fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2762600	NM_001017979.3(RAB28):c.261+7T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760072	NM_001017979.3(RAB28):c.99T>C (p.Ala33=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685959	GRCh37/hg19 4p15.33(chr4:13402895-13623842)x3	BOD1L1, NKX3-2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	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 2425047	NC_000004.11:g.(?_13371500)_(13546038_?)del	NKX3-2, RAB28	Deletion	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 2331889	NM_001017979.3(RAB28):c.136G>A (p.Gly46Arg)	RAB28 (G46R)	Single nucleotide variant (missense variant)	not specified	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 2177273	NM_001017979.3(RAB28):c.90G>C (p.Thr30=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164272	NM_001017979.3(RAB28):c.282T>C (p.Asp94=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2129844	NM_001017979.3(RAB28):c.5C>T (p.Ser2Leu)	LOC111828517, RAB28 (S2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2122806	NM_001017979.3(RAB28):c.48C>G (p.Val16=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2113912	NM_001017979.3(RAB28):c.76-3del	RAB28	Deletion (intron variant)	not provided	GBenign
Select item 2093933	NM_004249.4(RAB28):c.603_615del (p.Lys200_Tyr201insTer)	RAB28	Deletion (nonsense +1 more)	not provided	GPathogenic
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 2047389	NM_004249.4(RAB28):c.653_654delinsAT (p.Ser218Tyr)	RAB28 (S218Y)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2042082	NM_001017979.3(RAB28):c.153G>C (p.Leu51Phe)	RAB28 (L51F)	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 2007958	NM_001017979.3(RAB28):c.536G>A (p.Gly179Glu)	RAB28 (G179E)	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 1981132	NM_001017979.3(RAB28):c.89C>T (p.Thr30Met)	RAB28 (T30M)	Single nucleotide variant (missense variant)	not specified +1 more	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 1967879	NM_001017979.3(RAB28):c.441T>C (p.Phe147=)	RAB28	Single nucleotide variant (synonymous 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 1963667	NM_001017979.3(RAB28):c.173-9A>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963666	NM_001017979.3(RAB28):c.173-7del	RAB28	Deletion (intron variant)	not provided	GLikely benign
Select item 1960852	NM_001017979.3(RAB28):c.328GTG[1] (p.Val111del)	RAB28 (V111del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1954586	NM_001017979.3(RAB28):c.51G>T (p.Val17=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1950037	NM_001017979.3(RAB28):c.173-20A>G	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926478	NM_001017979.3(RAB28):c.75+16G>T	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1908127	NM_001017979.3(RAB28):c.28G>A (p.Asp10Asn)	LOC111828517, RAB28 (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899634	NM_001017979.3(RAB28):c.574-1331T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1716857	NM_001017979.3(RAB28):c.134T>C (p.Ile45Thr)	RAB28 (I45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1674587	NM_001017979.3(RAB28):c.496-6A>G	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669615	NM_001017979.3(RAB28):c.78C>T (p.Thr26=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668766	NM_001017979.3(RAB28):c.76-7T>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 1665340	NM_001017979.3(RAB28):c.496-17C>T	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1662071	NM_001017979.3(RAB28):c.21G>A (p.Glu7=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661936	NM_001017979.3(RAB28):c.573+12G>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660845	NM_001017979.3(RAB28):c.574-1330G>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648034	NM_001017979.3(RAB28):c.75+10C>G	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634648	NM_001017979.3(RAB28):c.76-18T>C	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631735	NM_001017979.3(RAB28):c.76-15G>A	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625251	NM_001017979.3(RAB28):c.276A>G (p.Val92=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621640	NM_001017979.3(RAB28):c.474C>G (p.Val158=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617354	NM_001017979.3(RAB28):c.261+14del	RAB28	Deletion (intron variant)	not provided	GLikely benign
Select item 1616745	NM_001017979.3(RAB28):c.48C>T (p.Val16=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605806	NM_001017979.3(RAB28):c.60C>T (p.Asp20=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604542	NM_001017979.3(RAB28):c.76-17G>A	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584060	NM_001017979.3(RAB28):c.173-9A>G	RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560427	NM_001017979.3(RAB28):c.294T>C (p.Tyr98=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559252	NM_001017979.3(RAB28):c.198T>C (p.Ile66=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555716	NM_001017979.3(RAB28):c.147C>T (p.Phe49=)	RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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