Related gene-specific medical variations for Gene (Select 3617) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246162	NC_000006.11:g.(?_76744032)_(76751843_?)dup	IMPG1	Duplication	not provided	GUncertain significance
Select item 3246161	NC_000006.11:g.(?_76631806)_(76633443_?)dup	IMPG1	Duplication	not provided	GUncertain significance
Select item 3246159	NC_000006.11:g.(?_76631806)_(76782205_?)dup	IMPG1	Duplication	not provided	GUncertain significance
Select item 3062936	GRCh37/hg19 6q14.1(chr6:76644218-76704148)x1	IMPG1	Copy number loss	not specified	GUncertain significance
Select item 1701925	NM_001563.4(IMPG1):c.1530del (p.Gly511fs)	IMPG1 (G433fs +1 more)	Deletion (frameshift variant)	Vitelliform macular dystrophy 4	GLikely pathogenic
Select item 866734	NM_001563.4(IMPG1):c.618C>T (p.Leu206=)	IMPG1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866596	NM_001563.4(IMPG1):c.262C>T (p.Gln88Ter)	IMPG1 (Q88*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866412	NM_001563.4(IMPG1):c.1350C>G (p.Phe450Leu)	IMPG1 (F372L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866161	NM_001563.4(IMPG1):c.188T>C (p.Leu63Ser)	IMPG1 (L63S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 814836	GRCh37/hg19 6q14.1(chr6:76754613-77353189)x1	IMPG1	Copy number loss	not provided	GUncertain significance
Select item 813048	NM_001563.4(IMPG1):c.807+1G>C	IMPG1	Single nucleotide variant (splice donor variant)	Vitelliform macular dystrophy 2	GPathogenic