"GeneDx"[submitter] AND "CRYGB"[gene] - ClinVar - NCBI

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Search results

Items: 19

	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 677166	NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)	LOC100507443, CRYGB (I111L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1183509	NM_005210.4(CRYGB):c.253-149T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282277	NM_005210.4(CRYGB):c.253-156T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224569	NM_005210.4(CRYGB):c.252+268A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237178	NM_005210.4(CRYGB):c.252+229A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263173	NM_005210.4(CRYGB):c.252+63dup	CRYGB, LOC100507443	Duplication (intron variant)	not provided	GBenign
Select item 1317988	NM_005210.4(CRYGB):c.252+84_252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	GLikely benign
Select item 1257871	NM_005210.4(CRYGB):c.252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	GBenign
Select item 677165	NM_005210.4(CRYGB):c.192T>C (p.Pro64=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 41988	NM_005210.4(CRYGB):c.10-38del	LOC100507443, CRYGB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1245788	NM_005210.4(CRYGB):c.9+13T>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229744	NM_005210.4(CRYGB):c.9+12G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249995	NM_005210.4(CRYGB):c.9+11G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286851	NM_005210.4(CRYGB):c.-28C>A	CRYGB, LOC100507443	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1170763	NC_000002.12:g.208146167G>A	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 1283350	NC_000002.12:g.208146290G>T	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1228871	NC_000002.12:g.208146403T>C	CRYGB, LOC100507443	Single nucleotide variant	not provided	GBenign