"GeneDx"[submitter] AND "CRYAA"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1703391	NM_000394.4(CRYAA):c.-62G>A	CRYAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 16958	NM_000394.4(CRYAA):c.27G>A (p.Trp9Ter)	CRYAA (W9*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 68460	NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)	CRYAA (R21W)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 340096	NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)	CRYAA (L52F)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1189748	NM_000394.4(CRYAA):c.189+33C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207668	NM_000394.4(CRYAA):c.189+71G>C	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686704	NM_000394.4(CRYAA):c.189+124C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248791	NM_000394.4(CRYAA):c.189+171C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229922	NM_000394.4(CRYAA):c.190-261C>T	CRYAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1265843	NM_000394.4(CRYAA):c.312+172G>A	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218313	NM_000394.4(CRYAA):c.313-285G>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289812	NM_000394.4(CRYAA):c.313-283G>C	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294005	NM_000394.4(CRYAA):c.313-41G>A	CRYAA	Single nucleotide variant (intron variant)	not provided	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 16960	NM_000394.4(CRYAA):c.347G>A (p.Arg116His)	CRYAA (R116H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 +1 more	GUncertain significance
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 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 340104	NM_000394.4(CRYAA):c.*93T>G	CRYAA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 25