"GeneDx"[submitter] AND "GUCA1B"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 256032	NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=)	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (synonymous variant)	Cone dystrophy +4 more	GBenign/Likely benign
Select item 356693	NM_001384910.1(GUCA1A):c.*76C>A	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +3 more	GLikely benign
Select item 432761	NM_002098.6(GUCA1B):c.593C>G (p.Ala198Gly)	GUCA1B (A198G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310433	NM_002098.6(GUCA1B):c.526G>A (p.Val176Met)	GUCA1B (V176M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136273	NM_002098.6(GUCA1B):c.514C>T (p.Arg172Trp)	GUCA1B (R172W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365599	NM_002098.6(GUCA1B):c.493G>A (p.Glu165Lys)	GUCA1B (E165K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309496	NM_002098.6(GUCA1B):c.428A>C (p.Glu143Ala)	GUCA1B (E143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367414	NM_002098.6(GUCA1B):c.305A>T (p.Asp102Val)	GUCA1B (D102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356736	NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign