ClinVar for MedGen (Select 346584) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255213	NM_173689.7(CRB2):c.823C>T (p.Arg275Ter)	CRB2 (R275*)	Single nucleotide variant (nonsense)	Ventriculomegaly-cystic kidney disease	GPathogenic
Select item 2663383	NM_173689.7(CRB2):c.3385T>A (p.Cys1129Ser)	CRB2 (C1129S)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GConflicting classifications of pathogenicity
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)	Ventriculomegaly-cystic kidney disease +3 more	GUncertain significance
Select item 1457188	NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)	CRB2 (C105*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 9 +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 +1 more	GUncertain significance
Select item 1255408	NM_173689.7(CRB2):c.3389+48A>G	CRB2	Single nucleotide variant (intron variant)	not provided +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)	not provided +1 more	GBenign
Select item 1167629	NM_173689.7(CRB2):c.2076C>T (p.Ser692=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1167628	NM_173689.7(CRB2):c.1587G>A (p.Ala529=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +1 more	GBenign
Select item 1098728	NM_173689.7(CRB2):c.3021T>C (p.Ala1007=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Ventriculomegaly-cystic kidney disease +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)	Ventriculomegaly-cystic kidney disease +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 provided +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)	not provided +1 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)	not provided +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)	Ventriculomegaly-cystic kidney disease +2 more	GBenign/Likely benign
Select item 727181	NM_173689.7(CRB2):c.516C>T (p.Cys172=)	CRB2	Single nucleotide variant (synonymous variant)	not provided +2 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 (missense 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)	CRB2-related disorder +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

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Items: 37