GUCA1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 356683	NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C	CIMIP3, GUCA1A +1 more	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 906414	NM_000409.5(GUCA1ANB-GUCA1A):c.-473C>T	CIMIP3, GUCA1A +1 more	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356684	NM_000409.5(GUCA1ANB-GUCA1A):c.-472A>C	CIMIP3, GUCA1A +1 more (M14L)	Single nucleotide variant	Cone dystrophy 3	GBenign
Select item 906415	NM_000409.5(GUCA1ANB-GUCA1A):c.-466G>A	CIMIP3, GUCA1A +1 more (G16S)	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356685	NM_000409.5(GUCA1ANB-GUCA1A):c.-465G>T	CIMIP3, GUCA1A +1 more (G16V)	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356686	NM_000409.5(GUCA1ANB-GUCA1A):c.-457-8C>T	CIMIP3, GUCA1A +1 more	Single nucleotide variant	Cone dystrophy 3	GBenign
Select item 907415	NM_000409.5(GUCA1ANB-GUCA1A):c.-413G>A	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356687	NM_000409.5(GUCA1ANB-GUCA1A):c.-388C>A	CIMIP3, GUCA1A +1 more (H42N +1 more)	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 908106	NM_000409.5(GUCA1ANB-GUCA1A):c.-378G>A	GUCA1A, GUCA1ANB-GUCA1A +1 more (R45Q +1 more)	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 910054	NM_000409.5(GUCA1ANB-GUCA1A):c.-372G>A	GUCA1A, GUCA1ANB-GUCA1A +1 more (R47Q +1 more)	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356688	NM_000409.5(GUCA1ANB-GUCA1A):c.-293G>A	CIMIP3, GUCA1A +1 more	Single nucleotide variant	Cone dystrophy 3	GUncertain significance
Select item 356689	NM_001384910.1(GUCA1A):c.-242C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (5 prime UTR variant)	Cone dystrophy 3	GUncertain significance
Select item 910055	NM_001384910.1(GUCA1A):c.-88G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (5 prime UTR variant)	Cone dystrophy 3	GUncertain significance
Select item 356690	NM_001384910.1(GUCA1A):c.-83G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (5 prime UTR variant)	Cone dystrophy 3	GBenign
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 1627619	NM_001384910.1(GUCA1A):c.6C>T (p.Gly2=)	GUCA1ANB-GUCA1A, GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494647	NM_001384910.1(GUCA1A):c.9C>G (p.Asn3Lys)	GUCA1A, GUCA1ANB-GUCA1A (N3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196267	NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 356692	NM_001384910.1(GUCA1A):c.10G>A (p.Val4Met)	GUCA1A, GUCA1ANB-GUCA1A (V4M)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 2004710	NM_001384910.1(GUCA1A):c.11T>C (p.Val4Ala)	GUCA1A, GUCA1ANB-GUCA1A (V4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128726	NM_001384910.1(GUCA1A):c.20G>C (p.Gly7Ala)	GUCA1A, GUCA1ANB-GUCA1A (G7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363765	NM_001384910.1(GUCA1A):c.25T>C (p.Ser9Pro)	GUCA1A, GUCA1ANB-GUCA1A (S9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115856	NM_001384910.1(GUCA1A):c.27A>C (p.Ser9=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499555	NM_001384910.1(GUCA1A):c.31_36del (p.Glu11_Glu12del)	GUCA1A, GUCA1ANB-GUCA1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 866995	NM_001384910.1(GUCA1A):c.41G>C (p.Ser14Thr)	GUCA1A, GUCA1ANB-GUCA1A (S14T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1164885	NM_001384910.1(GUCA1A):c.48C>T (p.Thr16=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3010037	NM_001384910.1(GUCA1A):c.49G>A (p.Glu17Lys)	GUCA1A, GUCA1ANB-GUCA1A (E17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463192	NM_001384910.1(GUCA1A):c.49G>T (p.Glu17Ter)	GUCA1A, GUCA1ANB-GUCA1A (E17*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1120932	NM_001384910.1(GUCA1A):c.60G>A (p.Gln20=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872679	NM_001384910.1(GUCA1A):c.64T>C (p.Tyr22His)	GUCA1A, GUCA1ANB-GUCA1A (Y22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853933	NM_001384910.1(GUCA1A):c.66C>A (p.Tyr22Ter)	GUCA1A, GUCA1ANB-GUCA1A (Y22*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 960157	NM_001384910.1(GUCA1A):c.73_75del (p.Phe25del)	GUCA1A, GUCA1ANB-GUCA1A (F25del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1943840	NM_001384910.1(GUCA1A):c.85T>C (p.Cys29Arg)	GUCA1A, GUCA1ANB-GUCA1A (C29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977312	NM_001384910.1(GUCA1A):c.86G>A (p.Cys29Tyr)	GUCA1A, GUCA1ANB-GUCA1A (C29Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122417	NM_001384910.1(GUCA1A):c.90del (p.Ser31fs)	GUCA1A, GUCA1ANB-GUCA1A (S31fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1125040	NM_001384910.1(GUCA1A):c.93T>C (p.Ser31=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135445	NM_001384910.1(GUCA1A):c.99A>G (p.Gln33=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018586	NM_001384910.1(GUCA1A):c.100C>T (p.Leu34Phe)	GUCA1A, GUCA1ANB-GUCA1A (L34F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2777310	NM_001384910.1(GUCA1A):c.110A>T (p.Tyr37Phe)	GUCA1A, GUCA1ANB-GUCA1A (Y37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728224	NM_001384910.1(GUCA1A):c.118C>T (p.Arg40Cys)	GUCA1A, GUCA1ANB-GUCA1A (R40C)	Single nucleotide variant (missense variant)	GUCA1A-related disorder +1 more	GLikely benign
Select item 2004409	NM_001384910.1(GUCA1A):c.119G>C (p.Arg40Pro)	GUCA1A, GUCA1ANB-GUCA1A (R40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395052	NM_001384910.1(GUCA1A):c.119G>T (p.Arg40Leu)	GUCA1A, GUCA1ANB-GUCA1A (R40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956063	NM_001384910.1(GUCA1A):c.119G>A (p.Arg40His)	GUCA1A, GUCA1ANB-GUCA1A (R40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699437	NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His)	GUCA1A, GUCA1ANB-GUCA1A (Q41H)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 1654421	NM_001384910.1(GUCA1A):c.124T>A (p.Phe42Ile)	GUCA1A, GUCA1ANB-GUCA1A (F42I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 841783	NM_001384910.1(GUCA1A):c.124T>C (p.Phe42Leu)	GUCA1ANB-GUCA1A, GUCA1A (F42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972185	NM_001384910.1(GUCA1A):c.126C>T (p.Phe42=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143436	NM_001384910.1(GUCA1A):c.129C>T (p.Phe43=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 939170	NM_001384910.1(GUCA1A):c.130G>A (p.Gly44Ser)	GUCA1A, GUCA1ANB-GUCA1A (G44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167160	NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1450736	NM_001384910.1(GUCA1A):c.149C>G (p.Pro50Arg)	GUCA1A, GUCA1ANB-GUCA1A (P50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9151	NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)	GUCA1A, GUCA1ANB-GUCA1A (P50L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1147656	NM_001384910.1(GUCA1A):c.150G>A (p.Pro50=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196268	NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)	GUCA1A, GUCA1ANB-GUCA1A (S51L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1958755	NM_001384910.1(GUCA1A):c.153G>A (p.Ser51=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839598	NM_001384910.1(GUCA1A):c.154G>A (p.Ala52Thr)	GUCA1A, GUCA1ANB-GUCA1A (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819950	NM_001384910.1(GUCA1A):c.155_156delinsGT (p.Ala52Gly)	GUCA1A, GUCA1ANB-GUCA1A (A52G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2753173	NM_001384910.1(GUCA1A):c.155C>G (p.Ala52Gly)	GUCA1A, GUCA1ANB-GUCA1A (A52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589653	NM_001384910.1(GUCA1A):c.165C>T (p.Tyr55=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962448	NM_001384910.1(GUCA1A):c.166G>T (p.Val56Leu)	GUCA1A, GUCA1ANB-GUCA1A (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383717	NM_001384910.1(GUCA1A):c.166G>A (p.Val56Met)	GUCA1A, GUCA1ANB-GUCA1A (V56M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802229	NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)	GUCA1ANB-GUCA1A, GUCA1A (T62P)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 1952071	NM_001384910.1(GUCA1A):c.195C>T (p.Phe65=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004537	NM_001384910.1(GUCA1A):c.201+1G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1495642	NM_001384910.1(GUCA1A):c.201+3G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1500269	NM_001384910.1(GUCA1A):c.201+5G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 968360	NM_001384910.1(GUCA1A):c.201+5G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 910953	NM_001384910.1(GUCA1A):c.201+11G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	Cone dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 2992449	NM_001384910.1(GUCA1A):c.201+12C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001440	NM_001384910.1(GUCA1A):c.201+16G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642111	NM_001384910.1(GUCA1A):c.201+20C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016887	NM_001384910.1(GUCA1A):c.202-19G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168938	NM_001384910.1(GUCA1A):c.202-16C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674850	NM_001384910.1(GUCA1A):c.202-15G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1150652	NM_001384910.1(GUCA1A):c.202-13G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551392	NM_001384910.1(GUCA1A):c.202-9C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112307	NM_001384910.1(GUCA1A):c.202-7C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080786	NM_001384910.1(GUCA1A):c.202-6G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168023	NM_001384910.1(GUCA1A):c.202-4C>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	GUCA1A-related disorder +1 more	GBenign/Likely benign
Select item 974932	NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu)	GUCA1A, GUCA1ANB-GUCA1A (D68E)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 841637	NM_001384910.1(GUCA1A):c.205G>C (p.Gly69Arg)	GUCA1A, GUCA1ANB-GUCA1A (G69R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377947	NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys)	GUCA1A, GUCA1ANB-GUCA1A (G69C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1016353	NM_001384910.1(GUCA1A):c.211A>G (p.Ile71Val)	GUCA1A, GUCA1ANB-GUCA1A (I71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 867036	NM_001384910.1(GUCA1A):c.212T>C (p.Ile71Thr)	GUCA1A, GUCA1ANB-GUCA1A (I71T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
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 2999372	NM_001384910.1(GUCA1A):c.221T>A (p.Met74Lys)	GUCA1A, GUCA1ANB-GUCA1A (M74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008436	NM_001384910.1(GUCA1A):c.227A>G (p.Tyr76Cys)	GUCA1A, GUCA1ANB-GUCA1A (Y76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985230	NM_001384910.1(GUCA1A):c.228C>T (p.Tyr76=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996045	NM_001384910.1(GUCA1A):c.231G>A (p.Val77=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484862	NM_001384910.1(GUCA1A):c.235G>T (p.Ala79Ser)	GUCA1A, GUCA1ANB-GUCA1A (A79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956997	NM_001384910.1(GUCA1A):c.235G>A (p.Ala79Thr)	GUCA1ANB-GUCA1A, GUCA1A (A79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958143	NM_001384910.1(GUCA1A):c.236del (p.Ala79fs)	GUCA1A, GUCA1ANB-GUCA1A (A79fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1505461	NM_001384910.1(GUCA1A):c.236C>A (p.Ala79Glu)	GUCA1A, GUCA1ANB-GUCA1A (A79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1662676	NM_001384910.1(GUCA1A):c.237G>C (p.Ala79=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477180	NM_001384910.1(GUCA1A):c.238C>T (p.Leu80Phe)	GUCA1A, GUCA1ANB-GUCA1A (L80F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974936	NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile)	GUCA1A, GUCA1ANB-GUCA1A (L80I)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 2189452	NM_001384910.1(GUCA1A):c.240C>T (p.Leu80=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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