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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 853560	NM_021831.6(AGBL5):c.78A>C (p.Glu26Asp)	AGBL5 (E26D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1502550	NM_021831.6(AGBL5):c.91G>C (p.Asp31His)	AGBL5 (D31H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250238	NM_021831.6(AGBL5):c.160T>A (p.Phe54Ile)	AGBL5 (F54I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 967211	NM_021831.6(AGBL5):c.239G>A (p.Arg80Gln)	AGBL5 (R80Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3250271	NM_021831.6(AGBL5):c.265A>G (p.Lys89Glu)	AGBL5 (K89E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250224	NM_021831.6(AGBL5):c.296G>T (p.Ser99Ile)	AGBL5 (S99I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3248901	NM_021831.6(AGBL5):c.319del (p.Ala107fs)	AGBL5 (A107fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 837462	NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys)	AGBL5 (R147C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2081579	NM_021831.6(AGBL5):c.726G>C (p.Lys242Asn)	AGBL5 (K242N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520402	NM_021831.6(AGBL5):c.961G>A (p.Val321Ile)	AGBL5 (V321I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3249139	NM_021831.6(AGBL5):c.1021C>G (p.Arg341Gly)	AGBL5 (R341G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1020956	NM_021831.6(AGBL5):c.1265C>A (p.Pro422His)	AGBL5 (P422H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 844256	NM_021831.6(AGBL5):c.1466G>A (p.Arg489His)	AGBL5 (R489H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3249618	NM_021831.6(AGBL5):c.1498C>T (p.Arg500Cys)	AGBL5 (R500C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3248690	NM_021831.6(AGBL5):c.1775G>A (p.Trp592Ter)	AGBL5 (W592*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 1054246	NM_021831.6(AGBL5):c.1793G>A (p.Arg598His)	AGBL5 (R598H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3249837	NM_021831.6(AGBL5):c.1838A>G (p.Lys613Arg)	AGBL5 (K613R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1464505	NM_021831.6(AGBL5):c.2096G>A (p.Arg699Gln)	AGBL5 (R699Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1364944	NM_021831.6(AGBL5):c.2104G>A (p.Asp702Asn)	AGBL5 (D702N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1035530	NM_021831.6(AGBL5):c.2348G>A (p.Arg783Gln)	AGBL5 (R783Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2835474	NM_021831.6(AGBL5):c.2490-2A>G	AGBL5	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

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Items: 21