GUCA1B[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	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
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 867021	NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly)	GUCA1A, GUCA1ANB-GUCA1A +1 more (D100G)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +2 more	GPathogenic/Likely pathogenic
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 369542	NM_001384910.1(GUCA1A):c.*10C>A	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GConflicting classifications of pathogenicity
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 356695	NM_001384910.1(GUCA1A):c.*331A>G	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GLikely benign
Select item 356696	NM_001384910.1(GUCA1A):c.*345G>A	GUCA1B, GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GLikely benign
Select item 369546	NM_001384910.1(GUCA1A):c.*415C>T	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GLikely benign
Select item 356697	NM_001384910.1(GUCA1A):c.*479C>T	GUCA1A, GUCA1ANB-GUCA1A +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356700	NM_002098.6(GUCA1B):c.*1318G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356701	NM_002098.6(GUCA1B):c.*1263G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356702	NM_002098.6(GUCA1B):c.*1203T>C	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356703	NM_002098.6(GUCA1B):c.*1126A>G	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356704	NM_002098.6(GUCA1B):c.*1088G>C	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356705	NM_002098.6(GUCA1B):c.*1018C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 356706	NM_002098.6(GUCA1B):c.*997C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 356707	NM_002098.6(GUCA1B):c.*961A>C	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 910125	NM_002098.6(GUCA1B):c.*940C>G	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356708	NM_002098.6(GUCA1B):c.*928A>G	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356709	NM_002098.6(GUCA1B):c.*868G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356710	NM_002098.6(GUCA1B):c.*832G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 356711	NM_002098.6(GUCA1B):c.*780C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 356712	NM_002098.6(GUCA1B):c.*767A>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 911015	NM_002098.6(GUCA1B):c.*688G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356713	NM_002098.6(GUCA1B):c.*666G>T	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356714	NM_002098.6(GUCA1B):c.*618G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 911016	NM_002098.6(GUCA1B):c.*589T>C	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356715	NM_002098.6(GUCA1B):c.*581G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 912246	NM_002098.6(GUCA1B):c.*559T>C	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356716	NM_002098.6(GUCA1B):c.*507C>G	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356717	NM_002098.6(GUCA1B):c.*503G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 356718	NM_002098.6(GUCA1B):c.*502C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356719	NM_002098.6(GUCA1B):c.*488C>T	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 356720	NM_002098.6(GUCA1B):c.*480G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 356721	NM_002098.6(GUCA1B):c.*477C>T	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356722	NM_002098.6(GUCA1B):c.*473G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 908241	NM_002098.6(GUCA1B):c.*461C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356723	NM_002098.6(GUCA1B):c.*457A>G	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 356724	NM_002098.6(GUCA1B):c.*451A>G	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 908242	NM_002098.6(GUCA1B):c.*445G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356725	NM_002098.6(GUCA1B):c.*433A>G	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356726	NM_002098.6(GUCA1B):c.*429G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 908243	NM_002098.6(GUCA1B):c.*428C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910191	NM_002098.6(GUCA1B):c.*362G>A	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 910192	NM_002098.6(GUCA1B):c.*358A>G	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356727	NM_002098.6(GUCA1B):c.*295G>A	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign
Select item 356729	NM_002098.6(GUCA1B):c.*220A>G	GUCA1A, GUCA1B	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 356728	NM_002098.6(GUCA1B):c.219_220del	GUCA1B	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 356730	NM_002098.6(GUCA1B):c.*205T>C	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356731	NM_002098.6(GUCA1B):c.*179A>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910193	NM_002098.6(GUCA1B):c.*107C>T	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 356732	NM_002098.6(GUCA1B):c.*95T>C	GUCA1B	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	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 1461677	NM_002098.6(GUCA1B):c.596T>C (p.Met199Thr)	GUCA1B (M199T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1578893	NM_002098.6(GUCA1B):c.594C>T (p.Ala198=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	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 1999358	NM_002098.6(GUCA1B):c.590G>A (p.Ser197Asn)	GUCA1B (S197N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857138	NM_002098.6(GUCA1B):c.582_584dup (p.Arg195dup)	GUCA1B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1052765	NM_002098.6(GUCA1B):c.584G>A (p.Arg195Gln)	GUCA1B (R195Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839767	NM_002098.6(GUCA1B):c.583C>T (p.Arg195Trp)	GUCA1B (R195W)	Single nucleotide variant (missense 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 1499658	NM_002098.6(GUCA1B):c.578A>G (p.Gln193Arg)	GUCA1B (Q193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559556	NM_002098.6(GUCA1B):c.573T>C (p.Ala191=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026021	NM_002098.6(GUCA1B):c.571G>A (p.Ala191Thr)	GUCA1B (A191T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911077	NM_002098.6(GUCA1B):c.570C>T (p.Leu190=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 3027742	NM_002098.6(GUCA1B):c.561C>T (p.Ser187=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinal dystrophy	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 1610328	NM_002098.6(GUCA1B):c.540G>A (p.Leu180=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1509115	NM_002098.6(GUCA1B):c.523T>C (p.Trp175Arg)	GUCA1B (W175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606066	NM_002098.6(GUCA1B):c.519C>T (p.Asp173=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911078	NM_002098.6(GUCA1B):c.516G>A (p.Arg172=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 3283147	NM_002098.6(GUCA1B):c.515G>A (p.Arg172Gln)	GUCA1B (R172Q)	Single nucleotide variant (missense variant)	not specified	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 1904340	NM_002098.6(GUCA1B):c.512G>A (p.Arg171His)	GUCA1B (R171H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960312	NM_002098.6(GUCA1B):c.511C>T (p.Arg171Cys)	GUCA1B (R171C)	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 1648213	NM_002098.6(GUCA1B):c.492C>T (p.Asn164=)	GUCA1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1464125	NM_002098.6(GUCA1B):c.476-1G>A	GUCA1B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 842345	NM_002098.6(GUCA1B):c.476-3C>G	GUCA1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 497464	NM_002098.6(GUCA1B):c.476-3C>T	GUCA1B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1570376	NM_002098.6(GUCA1B):c.476-4T>A	GUCA1B	Single nucleotide variant (intron 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 1601751	NM_002098.6(GUCA1B):c.476-9dup	GUCA1B	Duplication (intron variant)	not provided	GBenign
Select item 1511506	NM_002098.6(GUCA1B):c.476-9C>G	GUCA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958343	NM_002098.6(GUCA1B):c.476-10C>G	GUCA1B	Single nucleotide variant (intron 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 2115236	NM_002098.6(GUCA1B):c.475+18G>T	GUCA1B	Single nucleotide variant (intron 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 356733	NM_002098.6(GUCA1B):c.475+8G>A	GUCA1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1345887	NM_002098.6(GUCA1B):c.475+2T>C	GUCA1B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2106869	NM_002098.6(GUCA1B):c.475+1G>A	GUCA1B	Single nucleotide variant (splice donor variant)	not provided	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 7369	NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	GUCA1B (G157R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1011160	NM_002098.6(GUCA1B):c.467A>T (p.Asn156Ile)	GUCA1B (N156I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356734	NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp)	GUCA1B (E155D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1025881	NM_002098.6(GUCA1B):c.455TGG[1] (p.Val153del)	GUCA1B (V153del)	Microsatellite (inframe_deletion)	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

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