ClinVar for Gene (Select 2979) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027744	NM_002098.6(GUCA1B):c.81G>A (p.Lys27=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027742	NM_002098.6(GUCA1B):c.561C>T (p.Ser187=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2963754	NM_002098.6(GUCA1B):c.230A>C (p.Glu77Ala)	GUCA1B (E77A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847180	NM_002098.6(GUCA1B):c.426C>T (p.Pro142=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844439	NM_002098.6(GUCA1B):c.397C>A (p.Gln133Lys)	GUCA1B (Q133K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797980	NM_002098.6(GUCA1B):c.205_206delinsAA (p.Gly69Lys)	GUCA1B (G69K)	Indel (missense variant)	not provided	GUncertain significance
Select item 2769566	NM_002098.6(GUCA1B):c.282del (p.Lys95fs)	GUCA1B (K95fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2761558	NM_002098.6(GUCA1B):c.582A>T (p.Arg194Ser)	GUCA1B (R194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759237	NM_002098.6(GUCA1B):c.10_12del (p.Glu4del)	GUCA1B (E4del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2751029	NM_002098.6(GUCA1B):c.386_387inv (p.Arg129Pro)	GUCA1B (R129P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2706175	NM_002098.6(GUCA1B):c.435C>T (p.Val145=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656547	NM_002098.6(GUCA1B):c.195C>T (p.Phe65=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533547	NM_002098.6(GUCA1B):c.414G>C (p.Gln138His)	GUCA1B (Q138H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2316327	NM_002098.6(GUCA1B):c.116T>C (p.Met39Thr)	GUCA1B (M39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305801	NM_002098.6(GUCA1B):c.61C>T (p.Leu21Phe)	GUCA1B (L21F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265070	NM_002098.6(GUCA1B):c.427G>A (p.Glu143Lys)	GUCA1B (E143K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140384	NM_002098.6(GUCA1B):c.359G>A (p.Gly120Glu)	GUCA1B (G120E)	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 2115236	NM_002098.6(GUCA1B):c.475+18G>T	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106869	NM_002098.6(GUCA1B):c.475+1G>A	GUCA1B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2088309	NM_002098.6(GUCA1B):c.24G>A (p.Glu8=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081775	NM_002098.6(GUCA1B):c.155AGG[1] (p.Glu53del)	GUCA1B (E53del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2070393	NM_002098.6(GUCA1B):c.385C>T (p.Arg129Trp)	GUCA1B (R129W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067709	NM_002098.6(GUCA1B):c.178G>A (p.Gly60Ser)	GUCA1B (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063309	NM_002098.6(GUCA1B):c.315C>T (p.Gly105=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062920	NM_002098.6(GUCA1B):c.475+19G>C	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014434	NM_002098.6(GUCA1B):c.295A>G (p.Lys99Glu)	GUCA1B (K99E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999358	NM_002098.6(GUCA1B):c.590G>A (p.Ser197Asn)	GUCA1B (S197N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960370	NM_002098.6(GUCA1B):c.443G>A (p.Arg148Lys)	GUCA1B (R148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958343	NM_002098.6(GUCA1B):c.476-10C>G	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957042	NM_002098.6(GUCA1B):c.296A>G (p.Lys99Arg)	GUCA1B (K99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941063	NM_002098.6(GUCA1B):c.56C>T (p.Ala19Val)	GUCA1B (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917699	NM_002098.6(GUCA1B):c.347A>G (p.Asn116Ser)	GUCA1B (N116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913491	NM_002098.6(GUCA1B):c.417G>A (p.Leu139=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911267	NM_002098.6(GUCA1B):c.207+13G>A	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908187	NM_002098.6(GUCA1B):c.188G>A (p.Arg63Gln)	GUCA1B (R63Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1904340	NM_002098.6(GUCA1B):c.512G>A (p.Arg171His)	GUCA1B (R171H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903727	NM_002098.6(GUCA1B):c.357+3del	GUCA1B	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1808459	GRCh37/hg19 6p21.1(chr6:42043510-42274148)x3	C6orf132, GUCA1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1684787	NM_002098.6(GUCA1B):c.146_147del (p.Thr49fs)	GUCA1B (T49fs)	Microsatellite (frameshift variant)	not specified +1 more	GUncertain significance
Select item 1670772	NM_002098.6(GUCA1B):c.219C>T (p.Ile73=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667619	NM_002098.6(GUCA1B):c.208-19G>A	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659971	NM_002098.6(GUCA1B):c.327C>T (p.Ile109=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656149	NM_002098.6(GUCA1B):c.99C>A (p.Pro33=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648213	NM_002098.6(GUCA1B):c.492C>T (p.Asn164=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1615932	NM_002098.6(GUCA1B):c.208-12C>T	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610328	NM_002098.6(GUCA1B):c.540G>A (p.Leu180=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606066	NM_002098.6(GUCA1B):c.519C>T (p.Asp173=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603397	NM_002098.6(GUCA1B):c.369G>A (p.Gln123=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601751	NM_002098.6(GUCA1B):c.476-9dup	GUCA1B	Duplication (intron variant)	not provided	GBenign
Select item 1583562	NM_002098.6(GUCA1B):c.153T>C (p.Asp51=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578893	NM_002098.6(GUCA1B):c.594C>T (p.Ala198=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572959	NM_002098.6(GUCA1B):c.285G>A (p.Lys95=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570454	NM_002098.6(GUCA1B):c.30G>A (p.Ala10=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570376	NM_002098.6(GUCA1B):c.476-4T>A	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559556	NM_002098.6(GUCA1B):c.573T>C (p.Ala191=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541750	NM_002098.6(GUCA1B):c.475+15G>A	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527235	GRCh37/hg19 6p21.1(chr6:42063625-42274165)	GUCA1A, GUCA1B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1525925	NM_002098.6(GUCA1B):c.123del (p.Glu41fs)	GUCA1B (E41fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1524797	NM_002098.6(GUCA1B):c.80A>T (p.Lys27Met)	GUCA1B (K27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518530	NM_002098.6(GUCA1B):c.328G>A (p.Asp110Asn)	GUCA1B (D110N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514326	NM_002098.6(GUCA1B):c.137T>A (p.Phe46Tyr)	GUCA1B (F46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511506	NM_002098.6(GUCA1B):c.476-9C>G	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1509115	NM_002098.6(GUCA1B):c.523T>C (p.Trp175Arg)	GUCA1B (W175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504665	NM_002098.6(GUCA1B):c.131G>A (p.Arg44His)	GUCA1B (R44H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504663	NM_002098.6(GUCA1B):c.449T>G (p.Phe150Cys)	GUCA1B (F150C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499658	NM_002098.6(GUCA1B):c.578A>G (p.Gln193Arg)	GUCA1B (Q193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495699	NM_002098.6(GUCA1B):c.179G>A (p.Gly60Asp)	GUCA1B (G60D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487628	NM_002098.6(GUCA1B):c.388C>T (p.Arg130Ter)	GUCA1B (R130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1479938	NM_002098.6(GUCA1B):c.457G>C (p.Val153Leu)	GUCA1B (V153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471935	NM_002098.6(GUCA1B):c.331C>T (p.Arg111Cys)	GUCA1B (R111C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1470859	NM_002098.6(GUCA1B):c.470G>C (p.Gly157Ala)	GUCA1B (G157A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470677	NM_002098.6(GUCA1B):c.560G>T (p.Ser187Ile)	GUCA1B (S187I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467125	NM_002098.6(GUCA1B):c.597G>A (p.Met199Ile)	GUCA1B (M199I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464125	NM_002098.6(GUCA1B):c.476-1G>A	GUCA1B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1463432	NM_002098.6(GUCA1B):c.144C>T (p.Val48=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461772	NM_002098.6(GUCA1B):c.171_172inv (p.Val58Ile)	GUCA1B (V58I)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1461677	NM_002098.6(GUCA1B):c.596T>C (p.Met199Thr)	GUCA1B (M199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439951	NM_002098.6(GUCA1B):c.111_114del (p.Phe38fs)	GUCA1B (F38fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1438726	NM_002098.6(GUCA1B):c.322T>A (p.Cys108Ser)	GUCA1B (C108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428985	NM_002098.6(GUCA1B):c.29C>T (p.Ala10Val)	GUCA1B (A10V)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1422920	NM_002098.6(GUCA1B):c.24GGAGGC[3] (p.9EA[3])	GUCA1B	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1419640	NM_002098.6(GUCA1B):c.183G>A (p.Met61Ile)	GUCA1B (M61I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419085	NM_002098.6(GUCA1B):c.42C>T (p.Gly14=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385376	NM_002098.6(GUCA1B):c.207+1G>A	GUCA1B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1376751	NM_002098.6(GUCA1B):c.373A>G (p.Lys125Glu)	GUCA1B (K125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351460	NM_002098.6(GUCA1B):c.389G>A (p.Arg130Gln)	GUCA1B (R130Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1347434	NM_002098.6(GUCA1B):c.310G>A (p.Asp104Asn)	GUCA1B (D104N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345887	NM_002098.6(GUCA1B):c.475+2T>C	GUCA1B	Single nucleotide variant (splice donor 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 1309496	NM_002098.6(GUCA1B):c.428A>C (p.Glu143Ala)	GUCA1B (E143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135846	NM_002098.6(GUCA1B):c.280C>T (p.Leu94=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133294	NM_002098.6(GUCA1B):c.476-6_476-5delinsTT	GUCA1B	Indel (intron variant)	not provided	GLikely benign
Select item 1121584	NM_002098.6(GUCA1B):c.252C>T (p.Leu84=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119806	NM_002098.6(GUCA1B):c.57G>A (p.Ala19=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108801	NM_002098.6(GUCA1B):c.384C>T (p.Cys128=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103207	NM_002098.6(GUCA1B):c.168G>A (p.Gln56=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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