Bivm Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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31 records found for search term Bivm

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15154457	CV738920	single nucleotide variant	NM_017693.4(BIVM):c.294C>T (p.Thr98=)	not provided [RCV000901958]	likely benign	13	102807561	102807561	Human		name
126911826	CV1038190	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.1626+4A>G	not provided [RCV001355807]	uncertain significance	13	102852297	102852297	Human		name
405746537	CV3294686	single nucleotide variant	NM_017693.4(BIVM):c.55A>G (p.Lys19Glu)	not specified [RCV004431467]	uncertain significance	13	102807322	102807322	Human		name
152980356	CV1678566	single nucleotide variant	NM_017693.4(BIVM):c.244A>G (p.Ile82Val)	not provided [RCV002264483]\|not specified [RCV002247074]	benign\|likely benign	13	102807511	102807511	Human		name
401749225	CV2693018	single nucleotide variant	NM_017693.4(BIVM):c.236C>T (p.Ala79Val)	not specified [RCV004308568]	uncertain significance	13	102807503	102807503	Human		name
15130955	CV713814	single nucleotide variant	NM_017693.4(BIVM):c.1389G>A (p.Gly463=)	not provided [RCV000964522]	benign	13	102839742	102839742	Human		name
597716531	CV3636795	single nucleotide variant	NM_017693.4(BIVM):c.702C>A (p.Asn234Lys)	not specified [RCV004887274]	uncertain significance	13	102821743	102821743	Human		name
151352822	CV1326107	single nucleotide variant	NM_017693.4(BIVM):c.1430C>T (p.Ser477Leu)	not provided [RCV001815756]	likely benign	13	102839783	102839783	Human		name
156132434	CV2365799	single nucleotide variant	NM_017693.4(BIVM):c.1475G>C (p.Gly492Ala)	not specified [RCV004214334]	uncertain significance	13	102839828	102839828	Human		name
150543787	CV1309791	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.1676C>T (p.Thr559Met)	not provided [RCV003237538]\|not specified [RCV004040749]	uncertain significance	13	102853806	102853806	Human		name
8687474	CV137927	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.2702C>T (p.Ala901Val)	not specified [RCV000120861]	likely benign\|not provided	13	102862489	102862489	Human		name
156384954	CV2231235	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.2977C>T (p.His993Tyr)	not specified [RCV004094434]	likely benign	13	102862764	102862764	Human		name
155987875	CV2363903	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.1573C>T (p.Arg525Cys)	not specified [RCV004218874]	uncertain significance	13	102852240	102852240	Human		name
405746546	CV3294687	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.1756C>T (p.Pro586Ser)	not specified [RCV004431468]	uncertain significance	13	102854301	102854301	Human		name
597716521	CV3636796	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.2900C>G (p.Ala967Gly)	not specified [RCV004887275]	uncertain significance	13	102862687	102862687	Human		name
597716513	CV3636797	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.2263G>A (p.Ala755Thr)	not specified [RCV004887277]	uncertain significance	13	102862050	102862050	Human		name
8634960	CV90182	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.2638G>A (p.Glu880Lys)	not specified [RCV004887276]	uncertain significance\|not provided	13	102862425	102862425	Human		name
126911976	CV1038194	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.4379A>G (p.Asp1460Gly)	not provided [RCV001355991]	uncertain significance	13	102875359	102875359	Human		name
126914407	CV1038195	single nucleotide variant	NM_001204425.2(BIVM-ERCC5):c.4387C>T (p.Arg1463Cys)	not provided [RCV001358230]	uncertain significance	13	102875367	102875367	Human		name
8687453	CV137906	single nucleotide variant	NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)	BIVM-ERCC5-related disorder [RCV003965012]\|Cerebrooculofacioskeletal syndrome 3 [RCV001294159]\|not provided [RCV000860816]\|not specified [RCV000120840]	likely benign\|uncertain significance\|not provided	13	102875380	102875380	Human	1	trait , alternate_id
8687460	CV137913	single nucleotide variant	NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr)	BIVM-ERCC5-related disorder [RCV003905149]\|Hereditary cancer-predisposing syndrome [RCV002256059]\|Xeroderma pigmentosum, group G [RCV001113992]\|not provided [RCV000909573]\|not specified [RCV000120847]	likely benign\|uncertain significance\|not provided	13	102875769	102875769	Human	2	trait , alternate_id
8687481	CV137934	single nucleotide variant	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	BIVM-ERCC5-related disorder [RCV003905150]\|Cerebrooculofacioskeletal syndrome 3 [RCV001292856]\|Hereditary cancer-predisposing syndrome [RCV002256061]\|Xeroderma pigmentosum, group G [RCV000625478]\|not provided [RCV000995081]\|not specified [RCV000120868]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	13	102862938	102862938	Human	3	trait , alternate_id
156138188	CV2129214	single nucleotide variant	NM_000123.4(ERCC5):c.2199+8C>T	BIVM-ERCC5-related disorder [RCV003943645]\|not provided [RCV002954128]	likely benign	13	102865919	102865919	Human		trait , alternate_id
11603984	CV318832	single nucleotide variant	NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	BIVM-ERCC5-related disorder [RCV003940192]\|ERCC5-related disorder [RCV003940191]\|Hereditary cancer-predisposing syndrome [RCV002255360]\|Xeroderma pigmentosum, group G [RCV000625480]\|not provided [RCV000861187]	benign\|likely benign\|uncertain significance	13	102872297	102872297	Human	3	trait , alternate_id
11620866	CV327226	single nucleotide variant	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	BIVM-ERCC5-related disorder [RCV003910155]\|Hereditary cancer-predisposing syndrome [RCV002258872]\|Inborn genetic diseases [RCV002520850]\|Xeroderma pigmentosum, group G [RCV000625481]\|Xeroderma pigmentosum, group G [RCV000763871]\|not provided [RCV000897333]\|not s ... (more) pecified [RCV003323507]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	102872337	102872337	Human	4	trait , alternate_id
11621206	CV333331	single nucleotide variant	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	BIVM-ERCC5-related disorder [RCV003940190]\|Hereditary cancer-predisposing syndrome [RCV002258870]\|Xeroderma pigmentosum, group G [RCV000625475]\|not provided [RCV000861081]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	102862259	102862259	Human	2	trait , alternate_id
11619676	CV333352	single nucleotide variant	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	BIVM-ERCC5-related disorder [RCV003967908]\|Hereditary cancer-predisposing syndrome [RCV002256198]\|Xeroderma pigmentosum, group G [RCV000327794]\|not provided [RCV000933395]	likely benign\|uncertain significance	13	102875828	102875828	Human	2	trait , alternate_id
11626127	CV335071	single nucleotide variant	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	BIVM-ERCC5-related disorder [RCV003977918]\|Xeroderma pigmentosum, group G [RCV000407191]\|not provided [RCV002520849]	likely benign\|uncertain significance	13	102862280	102862280	Human	1	trait , alternate_id
11622845	CV335081	single nucleotide variant	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	BIVM-ERCC5-related disorder [RCV003957614]\|Hereditary cancer-predisposing syndrome [RCV002256196]\|Xeroderma pigmentosum, group G [RCV000365403]\|not provided [RCV000861125]	likely benign\|uncertain significance	13	102862436	102862436	Human	2	trait , alternate_id
15100301	CV725347	single nucleotide variant	NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=)	BIVM-ERCC5-related disorder [RCV003930816]\|Xeroderma pigmentosum, group G [RCV001113994]\|not provided [RCV000892085]	likely benign\|uncertain significance	13	102875834	102875834	Human	1	trait , alternate_id
15136448	CV769390	single nucleotide variant	NM_000123.4(ERCC5):c.2454G>A (p.Ala818=)	BIVM-ERCC5-related disorder [RCV003903143]\|Hereditary cancer-predisposing syndrome [RCV002255590]\|not provided [RCV000943079]	benign\|likely benign	13	102866766	102866766	Human	1	trait , alternate_id

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