ClinVar for MedGen (Select 346584) - ClinVar

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

Links from MedGen

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679728	NM_173689.7(CRB2):c.1054+2T>G	CRB2	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 9 +1 more	GLikely pathogenic
Select item 1461533	NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser)	CRB2 (G941S)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9 +3 more	GUncertain significance
Select item 1457188	NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)	CRB2 (C105*)	Single nucleotide variant (nonsense)	Ventriculomegaly-cystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1411224	NM_173689.7(CRB2):c.952G>A (p.Gly318Ser)	CRB2 (G318S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339235	NM_173689.7(CRB2):c.2470G>A (p.Val824Ile)	CRB2 (V824I)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GUncertain significance
Select item 1255408	NM_173689.7(CRB2):c.3389+48A>G	CRB2	Single nucleotide variant (intron variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1255407	NM_173689.7(CRB2):c.754+34G>C	CRB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230990	NM_173689.7(CRB2):c.-21CAGAGCG[1]	CRB2	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1167630	NM_173689.7(CRB2):c.3329C>T (p.Thr1110Met)	CRB2 (T1110M)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167629	NM_173689.7(CRB2):c.2076C>T (p.Ser692=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167628	NM_173689.7(CRB2):c.1587G>A (p.Ala529=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167581	NM_173689.7(CRB2):c.2817G>C (p.Leu939=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1167062	NM_173689.7(CRB2):c.2905A>G (p.Thr969Ala)	CRB2 (T969A)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167061	NM_173689.7(CRB2):c.2126T>C (p.Val709Ala)	CRB2 (V709A)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167060	NM_173689.7(CRB2):c.269C>A (p.Thr90Asn)	CRB2 (T90N)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166117	NM_173689.7(CRB2):c.2523G>A (p.Thr841=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166116	NM_173689.7(CRB2):c.993C>T (p.Asn331=)	CRB2	Single nucleotide variant (synonymous variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166114	NM_173689.7(CRB2):c.476G>C (p.Gly159Ala)	CRB2 (G159A)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166113	NM_173689.7(CRB2):c.434T>C (p.Met145Thr)	CRB2 (M145T)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1098729	NM_173689.7(CRB2):c.3126G>C (p.Ala1042=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1098728	NM_173689.7(CRB2):c.3021T>C (p.Ala1007=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1027870	NM_173689.7(CRB2):c.2225G>A (p.Gly742Glu)	CRB2 (G742E)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GUncertain significance
Select item 781188	NM_173689.7(CRB2):c.606G>A (p.Leu202=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 774677	NM_173689.7(CRB2):c.2748C>T (p.Ala916=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Focal segmental glomerulosclerosis 9 +2 more	GBenign/Likely benign
Select item 773229	NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)	CRB2 (R610W)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 772939	NM_173689.7(CRB2):c.2043C>T (p.Ser681=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	CRB2-related disorder +2 more	GBenign/Likely benign
Select item 745089	NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu)	CRB2 (P406L)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +2 more	GBenign/Likely benign
Select item 736780	NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)	CRB2 (A930V)	Single nucleotide variant (missense variant +1 more)	CRB2-related disorder +3 more	GBenign/Likely benign
Select item 727181	NM_173689.7(CRB2):c.516C>T (p.Cys172=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder +3 more	GBenign/Likely benign
Select item 546072	NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)	CRB2 (N800K)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 180707	NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp)	CRB2 (R633W)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GPathogenic
Select item 180706	NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala)	CRB2 (E643A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 180704	NM_173689.7(CRB2):c.2277G>A (p.Trp759Ter)	CRB2 (W759*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 180701	NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	CRB2 (G1036fs)	Duplication (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 180699	NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser)	CRB2 (C620S)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 35