"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CRYBG2"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638509	NM_001039775.4(CRYBG2):c.4575G>A (p.Lys1525=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638510	NM_001039775.4(CRYBG2):c.3825C>T (p.His1275=)	CRYBG2, LOC129929817	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638511	NM_001039775.4(CRYBG2):c.2896C>T (p.Leu966=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638512	NM_001039775.4(CRYBG2):c.2201C>T (p.Thr734Met)	CRYBG2 (T734M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2638513	NM_001039775.4(CRYBG2):c.1707T>C (p.Ser569=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638514	NM_001039775.4(CRYBG2):c.1632C>A (p.Thr544=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638515	NM_001039775.4(CRYBG2):c.1626T>C (p.Phe542=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638516	NM_001039775.4(CRYBG2):c.1623A>G (p.Ser541=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638517	NM_001039775.4(CRYBG2):c.1581C>A (p.Thr527=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638518	NM_001039775.4(CRYBG2):c.1152T>A (p.Thr384=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638519	NM_001039775.4(CRYBG2):c.963G>A (p.Pro321=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638520	NM_001039775.4(CRYBG2):c.507C>T (p.Leu169=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign