CRB2[gene] - - NCBI

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

Search results

Items: 1 to 100 of 707

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148724	GRCh38/hg38 9q33.3(chr9:123324308-123980252)x1	CRB2, DENND1A +23 more	Copy number loss	See cases	GUncertain significance
Select item 1287253	NC_000009.12:g.123356133G>A	CRB2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1288801	NC_000009.12:g.123356192G>T	CRB2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1230990	NM_173689.7(CRB2):c.-21CAGAGCG[1]	CRB2	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1485449	NM_173689.7(CRB2):c.1A>G (p.Met1Val)	CRB2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729496	NM_173689.7(CRB2):c.5C>T (p.Ala2Val)	CRB2 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1095868	NM_173689.7(CRB2):c.12C>T (p.Ala4=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387658	NM_173689.7(CRB2):c.14G>A (p.Arg5Lys)	CRB2 (R5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591521	NM_173689.7(CRB2):c.34dup (p.Gln12fs)	CRB2 (Q12fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1027873	NM_173689.7(CRB2):c.38C>T (p.Ala13Val)	CRB2 (A13V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 9 +2 more	GConflicting classifications of pathogenicity
Select item 829963	NM_173689.7(CRB2):c.47_53dup (p.Leu19fs)	CRB2 (L19fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 9	GLikely pathogenic
Select item 744881	NM_173689.7(CRB2):c.54G>T (p.Leu18=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803629	NM_173689.7(CRB2):c.58C>T (p.Leu20=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1166112	NM_173689.7(CRB2):c.61C>T (p.Leu21=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215675	NM_173689.7(CRB2):c.77C>A (p.Ala26Asp)	CRB2 (A26D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1485285	NM_173689.7(CRB2):c.83C>A (p.Ser28Tyr)	CRB2 (S28Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037159	NM_173689.7(CRB2):c.85C>T (p.Leu29Phe)	CRB2 (L29F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2991559	NM_173689.7(CRB2):c.94+16T>C	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971031	NM_173689.7(CRB2):c.94+19C>T	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181072	NM_173689.7(CRB2):c.94+166G>A	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212825	NM_173689.7(CRB2):c.94+184G>A	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277382	NM_173689.7(CRB2):c.94+287G>C	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180383	NM_173689.7(CRB2):c.95-169T>C	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2524561	NM_173689.7(CRB2):c.98C>T (p.Thr33Met)	CRB2 (T33M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907930	NM_173689.7(CRB2):c.99G>A (p.Thr33=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065737	NM_173689.7(CRB2):c.102G>C (p.Val34=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374414	NM_173689.7(CRB2):c.103C>T (p.Pro35Ser)	CRB2 (P35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717237	NM_173689.7(CRB2):c.137C>T (p.Pro46Leu)	CRB2 (P46L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3031396	NM_173689.7(CRB2):c.138G>C (p.Pro46=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 2968207	NM_173689.7(CRB2):c.138G>A (p.Pro46=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040927	NM_173689.7(CRB2):c.141C>T (p.Cys47=)	CRB2	Single nucleotide variant (synonymous variant)	CRB2-related disorder	GLikely benign
Select item 731614	NM_173689.7(CRB2):c.142G>A (p.Ala48Thr)	CRB2 (A48T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1016486	NM_173689.7(CRB2):c.152C>A (p.Thr51Asn)	CRB2 (T51N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136463	NM_173689.7(CRB2):c.153C>T (p.Thr51=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875192	NM_173689.7(CRB2):c.156G>A (p.Glu52=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243204	NM_173689.7(CRB2):c.156G>C (p.Glu52Asp)	CRB2 (E52D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683063	NM_173689.7(CRB2):c.201G>T (p.Glu67Asp)	CRB2 (E67D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269432	NM_173689.7(CRB2):c.203C>T (p.Pro68Leu)	CRB2 (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713866	NM_173689.7(CRB2):c.205C>T (p.Arg69Trp)	CRB2 (R69W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3269423	NM_173689.7(CRB2):c.206G>A (p.Arg69Gln)	CRB2 (R69Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1917793	NM_173689.7(CRB2):c.234C>T (p.His78=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172096	NM_173689.7(CRB2):c.235G>A (p.Gly79Ser)	CRB2 (G79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432119	NM_173689.7(CRB2):c.237C>T (p.Gly79=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554509	NM_173689.7(CRB2):c.238G>A (p.Ala80Thr)	CRB2 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258817	NM_173689.7(CRB2):c.239C>G (p.Ala80Gly)	CRB2 (A80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1584134	NM_173689.7(CRB2):c.243G>C (p.Leu81=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025434	NM_173689.7(CRB2):c.251C>T (p.Pro84Leu)	CRB2 (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962680	NM_173689.7(CRB2):c.265C>T (p.Pro89Ser)	CRB2 (P89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446471	NM_173689.7(CRB2):c.269C>G (p.Thr90Ser)	CRB2 (T90S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167060	NM_173689.7(CRB2):c.269C>A (p.Thr90Asn)	CRB2 (T90N)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1100475	NM_173689.7(CRB2):c.269_270delinsAT (p.Thr90Asn)	CRB2 (T90N)	Indel (missense variant)	not provided	GLikely benign
Select item 742564	NM_173689.7(CRB2):c.270C>T (p.Thr90=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1940328	NM_173689.7(CRB2):c.271G>A (p.Gly91Ser)	CRB2 (G91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068401	NM_173689.7(CRB2):c.277C>T (p.Arg93Cys)	CRB2 (R93C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720137	NM_173689.7(CRB2):c.278G>A (p.Arg93His)	CRB2 (R93H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2443096	NM_173689.7(CRB2):c.288C>T (p.Cys96=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018300	NM_173689.7(CRB2):c.293C>T (p.Pro98Leu)	CRB2 (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725500	NM_173689.7(CRB2):c.310C>T (p.Arg104Cys)	CRB2 (R104C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2159749	NM_173689.7(CRB2):c.311G>A (p.Arg104His)	CRB2 (R104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991216	NM_173689.7(CRB2):c.315C>T (p.Cys105=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1457188	NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)	CRB2 (C105*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 9 +2 more	GPathogenic/Likely pathogenic
Select item 3077275	NM_173689.7(CRB2):c.322G>A (p.Asp108Asn)	CRB2 (D108N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1131922	NM_173689.7(CRB2):c.327C>T (p.Ile109=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322582	NM_173689.7(CRB2):c.328G>C (p.Asp110His)	CRB2 (D110H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527106	NM_173689.7(CRB2):c.343C>T (p.Arg115Trp)	CRB2 (R115W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342075	NM_173689.7(CRB2):c.347C>T (p.Pro116Leu)	CRB2 (P116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965349	NM_173689.7(CRB2):c.370C>A (p.Arg124Ser)	CRB2 (R124S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854914	NM_173689.7(CRB2):c.370C>T (p.Arg124Cys)	CRB2 (R124C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904630	NM_173689.7(CRB2):c.371G>A (p.Arg124His)	CRB2 (R124H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2213480	NM_173689.7(CRB2):c.391G>A (p.Glu131Lys)	CRB2 (E131K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738992	NM_173689.7(CRB2):c.418+8C>T	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634309	NM_173689.7(CRB2):c.418+15C>T	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979947	NM_173689.7(CRB2):c.418+16G>A	CRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247533	NM_173689.7(CRB2):c.418+261T>G	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226818	NM_173689.7(CRB2):c.419-198A>G	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165458	NM_173689.7(CRB2):c.419-16C>A	CRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1480486	NM_173689.7(CRB2):c.419-5T>G	CRB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 998907	NM_173689.7(CRB2):c.419G>A (p.Gly140Asp)	CRB2 (G140D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323008	NM_173689.7(CRB2):c.421G>C (p.Val141Leu)	CRB2 (V141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033209	NM_173689.7(CRB2):c.429C>T (p.Cys143=)	CRB2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 9	GUncertain significance
Select item 1166113	NM_173689.7(CRB2):c.434T>C (p.Met145Thr)	CRB2 (M145T)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 751725	NM_173689.7(CRB2):c.444C>T (p.Asp148=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926141	NM_173689.7(CRB2):c.467T>C (p.Leu156Pro)	CRB2 (L156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779094	NM_173689.7(CRB2):c.468G>A (p.Leu156=)	CRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1981852	NM_173689.7(CRB2):c.471C>T (p.His157=)	CRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749697	NM_173689.7(CRB2):c.471C>G (p.His157Gln)	CRB2 (H157Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 8