"GeneDx"[submitter] AND "GUCA1A"[gene] - ClinVar - NCBI

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Items: 16

	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 356691	NM_001384910.1(GUCA1A):c.-26A>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 9151	NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)	GUCA1ANB-GUCA1A, GUCA1A (P50L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 377947	NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys)	GUCA1A, GUCA1ANB-GUCA1A (G69C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1359190	NM_001384910.1(GUCA1A):c.219_221dup (p.Phe73_Met74insIle)	GUCA1A, GUCA1ANB-GUCA1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 9150	NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)	GUCA1A, GUCA1ANB-GUCA1A (Y99C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 1303724	NM_001384910.1(GUCA1A):c.310A>G (p.Asn104Asp)	GUCA1A, GUCA1ANB-GUCA1A (N104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306872	NM_001384910.1(GUCA1A):c.328_337del (p.Asp110fs)	GUCA1A, GUCA1ANB-GUCA1A (D110fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1801988	NM_001384910.1(GUCA1A):c.335T>A (p.Leu112Gln)	GUCA1A, GUCA1ANB-GUCA1A (L112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449489	NM_001384910.1(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr)	GUCA1A, GUCA1ANB-GUCA1A	Indel (inframe_indel)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1233520	NM_001384910.1(GUCA1A):c.446-96G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 9152	NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe)	GUCA1A, GUCA1ANB-GUCA1A (L151F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 2573966	NM_001384910.1(GUCA1A):c.554del (p.Asn185fs)	GUCA1A, GUCA1ANB-GUCA1A (N185fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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