ClinVar for MedGen (Select 347693) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2985948	NM_000394.4(CRYAA):c.190-24_190-10del	CRYAA	Deletion (intron variant)	Cataract 9 multiple types	GUncertain significance
Select item 2745366	NM_000394.4(CRYAA):c.225C>T (p.Leu75=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 2732820	NM_000394.4(CRYAA):c.303C>T (p.Asn101=)	CRYAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2574040	NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)	CRYAA (R54P)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 2514624	NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)	CRYAA (F17S)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GUncertain significance
Select item 2363101	NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)	CRYAA (S172P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2195346	NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)	CRYAA (S169L +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 2188237	NM_000394.4(CRYAA):c.213C>T (p.Phe71=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign
Select item 2066629	NM_000394.4(CRYAA):c.159C>T (p.Phe53=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 2065060	NM_000394.4(CRYAA):c.291C>T (p.His97=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1973261	NM_000394.4(CRYAA):c.249G>A (p.Glu83=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1619488	NM_000394.4(CRYAA):c.189+15G>A	CRYAA	Single nucleotide variant (intron variant)	Cataract 9 multiple types	GLikely benign
Select item 1534897	NM_000394.4(CRYAA):c.189+14C>T	CRYAA	Single nucleotide variant (intron variant)	Cataract 9 multiple types	GLikely benign
Select item 1482119	NM_000394.4(CRYAA):c.75G>C (p.Gln25His)	CRYAA (Q25H)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	ABCG1, ADARB1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 1372044	NM_000394.4(CRYAA):c.35G>A (p.Arg12His)	CRYAA (R12H)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1366904	NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr)	CRYAA (A133T +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1345527	NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup)	CRYAA	Duplication (inframe_insertion)	Cataract 9 multiple types	GUncertain significance
Select item 1153146	NM_000394.4(CRYAA):c.198C>T (p.Ser66=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1150066	NM_000394.4(CRYAA):c.111G>A (p.Leu37=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1139955	NM_000394.4(CRYAA):c.486G>A (p.Ser162=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 898796	NM_000394.4(CRYAA):c.481G>A (p.Val161Met)	CRYAA (V124M +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898795	NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys)	CRYAA (R82C +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898794	NM_000394.4(CRYAA):c.349C>T (p.Arg117Cys)	CRYAA (R80C +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898793	NM_000394.4(CRYAA):c.335G>A (p.Arg112His)	CRYAA (R75H +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GUncertain significance
Select item 897629	NM_000394.4(CRYAA):c.-30C>G	CRYAA	Single nucleotide variant (5 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 896109	NM_000394.4(CRYAA):c.*380G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 895828	NM_000394.4(CRYAA):c.*156T>G	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 863970	NM_000394.4(CRYAA):c.199G>C (p.Asp67His)	CRYAA (D30H +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 809292	NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp)	CRYAA (R31W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 534953	NM_000394.4(CRYAA):c.324C>T (p.Gly108=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types +1 more	GBenign
Select item 466610	NM_000394.4(CRYAA):c.54C>T (p.Tyr18=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign
Select item 340113	NM_000394.4(CRYAA):c.*507C>G	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types +1 more	GBenign
Select item 340112	NM_000394.4(CRYAA):c.*485G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types +1 more	GBenign
Select item 340111	NM_000394.4(CRYAA):c.*398G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 340110	NM_000394.4(CRYAA):c.*376G>C	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 340109	NM_000394.4(CRYAA):c.*333G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 340108	NM_000394.4(CRYAA):c.*253C>T	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 340107	NM_000394.4(CRYAA):c.*193G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 340106	NM_000394.4(CRYAA):c.*103C>T	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types +1 more	GLikely benign
Select item 340105	NM_000394.4(CRYAA):c.*102T>C	CRYAA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 340104	NM_000394.4(CRYAA):c.*93T>G	CRYAA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 340103	NM_000394.4(CRYAA):c.488G>A (p.Arg163Gln)	CRYAA (R163Q +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 340102	NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp)	CRYAA (A155D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 340101	NM_000394.4(CRYAA):c.375C>A (p.Asp125Glu)	CRYAA (D125E +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 340099	NM_000394.4(CRYAA):c.269A>C (p.Gln90Pro)	CRYAA (Q90P +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 340098	NM_000394.4(CRYAA):c.246G>A (p.Pro82=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types +1 more	GBenign
Select item 340097	NM_000394.4(CRYAA):c.245C>T (p.Pro82Leu)	CRYAA (P82L +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 340096	NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)	CRYAA (L52F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256010	NM_000394.4(CRYAA):c.6C>T (p.Asp2=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256009	NM_000394.4(CRYAA):c.444T>A (p.Thr148=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types +2 more	GBenign
Select item 256008	NM_000394.4(CRYAA):c.327C>T (p.Tyr109=)	CRYAA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 252948	NM_000394.4(CRYAA):c.440del (p.Gln147fs)	CRYAA (Q147fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 68461	NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)	CRYAA (R21Q)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 68460	NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)	CRYAA (R21W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68459	NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	CRYAA (R12C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 68457	NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)	CRYAA (R54C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 68456	NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg)	CRYAA (G98R +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 16960	NM_000394.4(CRYAA):c.347G>A (p.Arg116His)	CRYAA (R116H +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic
Select item 16959	NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys)	CRYAA (R49C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 16957	NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)	CRYAA (R116C +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic

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Links from MedGen

Items: 61