"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248883	NC_000002.12:g.(?_96274999)_(96809530_?)del	ARID5A, CNNM4 +40 more	Deletion	Retinal dystrophy	GPathogenic
Select item 3249983	NM_020184.4(CNNM4):c.9_55del (p.Val4fs)	CNNM4 (V4fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 288785	NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg)	CNNM4 (W31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3248745	NM_020184.4(CNNM4):c.451T>C (p.Cys151Arg)	CNNM4 (C151R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249858	NM_020184.4(CNNM4):c.880C>T (p.His294Tyr)	CNNM4 (H294Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3249864	NM_020184.4(CNNM4):c.947T>G (p.Leu316Arg)	CNNM4 (L316R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3249640	NM_020184.4(CNNM4):c.1195G>A (p.Glu399Lys)	CNNM4 (E399K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2847	NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)	CNNM4 (L438fs)	Duplication (frameshift variant)	Jalili syndrome	GLikely pathogenic
Select item 434794	NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)	CNNM4 (R519*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 2850	NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter)	CNNM4 (Q564*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic