Related gene-specific medical variations for Gene (Select 9364) - ClinVar

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Items: 32

	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 3043569	NM_001017979.3(RAB28):c.-9C>T	LOC111828517, RAB28	Single nucleotide variant (5 prime UTR variant)	RAB28-related disorder	GLikely benign
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 2129844	NM_001017979.3(RAB28):c.5C>T (p.Ser2Leu)	LOC111828517, RAB28 (S2L)	Single nucleotide variant (missense variant)	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 1954586	NM_001017979.3(RAB28):c.51G>T (p.Val17=)	LOC111828517, RAB28	Single nucleotide variant (synonymous 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 1908127	NM_001017979.3(RAB28):c.28G>A (p.Asp10Asn)	LOC111828517, RAB28 (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1648034	NM_001017979.3(RAB28):c.75+10C>G	LOC111828517, RAB28	Single nucleotide variant (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 1548155	NM_001017979.3(RAB28):c.75+11G>C	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1525334	NM_001017979.3(RAB28):c.75+1G>A	LOC111828517, RAB28	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1525019	NM_001017979.3(RAB28):c.1A>C (p.Met1Leu)	LOC111828517, RAB28 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1472487	NM_001017979.3(RAB28):c.75+14C>T	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1383691	NM_001017979.3(RAB28):c.68C>G (p.Ser23Cys)	LOC111828517, RAB28 (S23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302545	NM_001017979.3(RAB28):c.68C>T (p.Ser23Phe)	LOC111828517, RAB28 (S23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203208	NM_001017979.3(RAB28):c.-33A>C	LOC111828517, RAB28	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1156734	NM_001017979.3(RAB28):c.52C>T (p.Leu18=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130628	NM_001017979.3(RAB28):c.51G>A (p.Val17=)	LOC111828517, RAB28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053578	NM_001017979.3(RAB28):c.23G>A (p.Ser8Asn)	LOC111828517, RAB28 (S8N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011147	NM_001017979.3(RAB28):c.75+3C>T	LOC111828517, RAB28	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 955113	NM_001017979.3(RAB28):c.22A>T (p.Ser8Cys)	LOC111828517, RAB28 (S8C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 955060	NM_001017979.3(RAB28):c.70G>C (p.Gly24Arg)	LOC111828517, RAB28 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940572	NM_001017979.3(RAB28):c.54G>A (p.Leu18=)	LOC111828517, 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 865912	NM_001017979.3(RAB28):c.392-9C>G	RAB28	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 865911	NM_001017979.3(RAB28):c.266T>G (p.Val89Gly)	RAB28 (V89G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 636195	NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg)	LOC111828517, RAB28 (G19R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance

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Links from Gene

Items: 32