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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 1214795	NC_000002.12:g.208127913A>G	CRYGC, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 1283810	NC_000002.12:g.208128047G>A	CRYGC, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 66074	NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 620195	NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 429726	NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter)	CRYGC, LOC100507443 (Q143*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321018	NM_020989.4(CRYGC):c.424del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1200414	NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly)	LOC100507443, CRYGC (R142G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 465774	NM_020989.4(CRYGC):c.357C>T (p.Ser119=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract +1 more	GBenign/Likely benign
Select item 701962	NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn)	CRYGC, LOC100507443 (S106N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1214064	NM_020989.4(CRYGC):c.253-92A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245503	NM_020989.4(CRYGC):c.252+335T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219675	NM_020989.4(CRYGC):c.252+217A>G	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206925	NM_020989.4(CRYGC):c.252+191C>T	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219438	NM_020989.4(CRYGC):c.252+135T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262083	NM_020989.4(CRYGC):c.252+120A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402565	NM_020989.4(CRYGC):c.143G>A (p.Arg48His)	CRYGC, LOC100507443 (R48H)	Single nucleotide variant (missense variant)	Usher syndrome type 2C +3 more	GBenign
Select item 2578291	NM_020989.4(CRYGC):c.10-1G>A	CRYGC, LOC100507443	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1291617	NC_000002.12:g.208129973C>T	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1281316	NC_000002.12:g.208130125T>C	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 21