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

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Items: 26

	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 260059	NM_006891.4(CRYGD):c.*12T>C	CRYGD, LOC100507443	Single nucleotide variant (3 prime UTR variant)	Cataract 4 multiple types +2 more	GBenign
Select item 1511929	NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter)	CRYGD, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Aculeiform cataract +1 more	GLikely pathogenic
Select item 1302993	NM_006891.4(CRYGD):c.386G>A (p.Gly129Asp)	CRYGD, LOC100507443 (G129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260061	NM_006891.4(CRYGD):c.285A>G (p.Arg95=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +3 more	GBenign
Select item 333871	NM_006891.4(CRYGD):c.264C>G (p.His88Gln)	LOC100507443, CRYGD (H88Q)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 1270286	NM_006891.4(CRYGD):c.253-169G>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270956	NM_006891.4(CRYGD):c.253-170T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266956	NM_006891.4(CRYGD):c.253-266T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276600	NM_006891.4(CRYGD):c.252+317G>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443411	NM_006891.4(CRYGD):c.193G>A (p.Asp65Asn)	LOC100507443, CRYGD (D65N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333874	NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	CRYGD, LOC100507443 (Y56*)	Single nucleotide variant (nonsense)	Aculeiform cataract +3 more	GConflicting classifications of pathogenicity
Select item 333875	NM_006891.4(CRYGD):c.130A>G (p.Met44Val)	LOC100507443, CRYGD (M44V)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GBenign
Select item 449631	NM_006891.4(CRYGD):c.118A>T (p.Ser40Cys)	CRYGD, LOC100507443 (S40C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580739	NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro)	CRYGD, LOC100507443 (R37P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 16940	NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)	CRYGD, LOC100507443 (P24T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1300288	NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter)	CRYGD, LOC100507443 (Y17*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 260062	NM_006891.4(CRYGD):c.51T>C (p.Tyr17=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 16937	NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD, LOC100507443 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1261000	NM_006891.4(CRYGD):c.9+20C>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +1 more	GBenign
Select item 1242389	NM_006891.4(CRYGD):c.-44_-23del	CRYGD, LOC100507443	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1280606	NC_000002.12:g.208124828T>C	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1289102	NC_000002.12:g.208124857G>A	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1197205	NC_000002.12:g.208124868A>G	CRYGD, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 253742	GRCh37/hg19 2q33.3(chr2:208986369-208989316)x3	CRYGD	Copy number gain	See cases	GUncertain significance

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Items: 26