8004[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 3350754	NM_003873.7(NRP1):c.*7A>G	NRP1	Single nucleotide variant (3 prime UTR variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3044311	NM_003873.7(NRP1):c.*6G>A	NRP1	Single nucleotide variant (3 prime UTR variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3356335	NM_003873.7(NRP1):c.*5A>T	NRP1	Single nucleotide variant (3 prime UTR variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3353285	NM_003873.7(NRP1):c.2763G>A (p.Ser921=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 2594484	NM_003873.7(NRP1):c.2762C>T (p.Ser921Leu)	NRP1 (S904L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3348854	NM_003873.7(NRP1):c.2752A>C (p.Ser918Arg)	NRP1 (S901R +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3344087	NM_003873.7(NRP1):c.2748A>G (p.Thr916=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3350051	NM_003873.7(NRP1):c.2745T>A (p.Asn915Lys)	NRP1 (N898K +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3355250	NM_003873.7(NRP1):c.2742G>C (p.Leu914=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 2635875	NM_003873.7(NRP1):c.2696A>G (p.Tyr899Cys)	NRP1 (Y882C +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3202190	NM_003873.7(NRP1):c.2689G>C (p.Glu897Gln)	NRP1 (E891Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3348303	NM_003873.7(NRP1):c.2688G>A (p.Leu896=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 2536806	NM_003873.7(NRP1):c.2645C>A (p.Ala882Asp)	NRP1 (A875D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636092	NM_003873.7(NRP1):c.2632G>A (p.Val878Met)	NRP1 (V861M +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3052606	NM_003873.7(NRP1):c.2631C>A (p.Val877=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GBenign
Select item 2602398	NM_003873.7(NRP1):c.2629G>T (p.Val877Phe)	NRP1 (V871F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059358	NM_003873.7(NRP1):c.2595T>C (p.Ser865=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GBenign
Select item 3353352	NM_003873.7(NRP1):c.2575A>C (p.Ile859Leu)	NRP1 (I842L +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2634431	NM_003873.7(NRP1):c.2571C>G (p.Ile857Met)	NRP1 (I840M +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3352211	NM_003873.7(NRP1):c.2566C>A (p.Pro856Thr)	NRP1 (P839T +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3030707	NM_003873.7(NRP1):c.2562A>G (p.Leu854=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3356493	NM_003873.7(NRP1):c.2539C>G (p.Pro847Ala)	NRP1 (P830A +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2549825	NM_003873.7(NRP1):c.2522A>G (p.Lys841Arg)	NRP1 (K824R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526243	NM_003873.7(NRP1):c.2518G>A (p.Asp840Asn)	NRP1 (D823N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3353368	NM_003873.7(NRP1):c.2511A>C (p.Gly837=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 2557275	NM_003873.7(NRP1):c.2502A>T (p.Glu834Asp)	NRP1 (E827D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726098	NM_003873.7(NRP1):c.2500G>A (p.Glu834Lys)	NRP1 (E817K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3352303	NM_003873.7(NRP1):c.2499C>T (p.Tyr833=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3355942	NM_003873.7(NRP1):c.2495G>C (p.Gly832Ala)	NRP1 (G815A +3 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3038237	NM_003873.7(NRP1):c.2490G>A (p.Thr830=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GBenign
Select item 770962	NM_003873.7(NRP1):c.2483-3T>C	NRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3354381	NM_003873.7(NRP1):c.2483-7dup	NRP1	Duplication (intron variant)	NRP1-related disorder	GLikely benign
Select item 3354929	NM_003873.7(NRP1):c.2483-7del	NRP1	Deletion (intron variant)	NRP1-related disorder	GLikely benign
Select item 3358104	NM_003873.7(NRP1):c.2482+9G>T	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3202189	NM_003873.7(NRP1):c.2476G>A (p.Glu826Lys)	NRP1 (E819K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202188	NM_003873.7(NRP1):c.2473G>C (p.Asp825His)	NRP1 (D818H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356266	NM_003873.7(NRP1):c.2471T>C (p.Ile824Thr)	NRP1 (I818T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3357862	NM_003873.7(NRP1):c.2458C>T (p.Pro820Ser)	NRP1 (P813S +2 more)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 3351042	NM_003873.7(NRP1):c.2432-4T>A	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3356804	NM_003873.7(NRP1):c.2432-5G>A	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3048449	NM_003873.7(NRP1):c.2431+3A>G	NRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3357249	NM_003873.7(NRP1):c.2418A>G (p.Gln806=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3350798	NM_003873.7(NRP1):c.2388T>C (p.Asp796=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3351189	NM_003873.7(NRP1):c.2358A>G (p.Gly786=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3036946	NM_003873.7(NRP1):c.2355C>T (p.Ile785=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3057448	NM_003873.7(NRP1):c.2349C>T (p.Gly783=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 770764	NM_003873.7(NRP1):c.2349C>A (p.Gly783=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3055862	NM_003873.7(NRP1):c.2343C>T (p.Phe781=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GBenign
Select item 3346137	NM_003873.7(NRP1):c.2337G>C (p.Val779=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 2318124	NM_003873.7(NRP1):c.2335G>C (p.Val779Leu)	NRP1 (V779L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272323	NM_003873.7(NRP1):c.2317T>C (p.Ser773Pro)	NRP1 (S767P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3351781	NM_003873.7(NRP1):c.2300G>A (p.Arg767His)	NRP1 (R760H +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2495100	NM_003873.7(NRP1):c.2299C>T (p.Arg767Cys)	NRP1 (R761C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202186	NM_003873.7(NRP1):c.2297G>A (p.Gly766Glu)	NRP1 (G759E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3350509	NM_003873.7(NRP1):c.2267T>C (p.Ile756Thr)	NRP1 (I749T +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3036556	NM_003873.7(NRP1):c.2262G>A (p.Met754Ile)	NRP1 (M747I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635692	NM_003873.7(NRP1):c.2222G>A (p.Arg741His)	NRP1 (R734H +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3055728	NM_003873.7(NRP1):c.2197G>A (p.Val733Ile)	NRP1 (V726I +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GBenign
Select item 3054529	NM_003873.7(NRP1):c.2196C>A (p.His732Gln)	NRP1 (H725Q +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3030222	NM_003873.7(NRP1):c.2192C>T (p.Ser731Phe)	NRP1 (S724F +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2220840	NM_003873.7(NRP1):c.2120G>T (p.Arg707Leu)	NRP1 (R707L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301071	NM_003873.7(NRP1):c.2114T>C (p.Val705Ala)	NRP1 (V698A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3344876	NM_003873.7(NRP1):c.2106G>T (p.Lys702Asn)	NRP1 (K695N +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3055156	NM_003873.7(NRP1):c.2088A>G (p.Gln696=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3356273	NM_003873.7(NRP1):c.2076C>T (p.Phe692=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3357099	NM_003873.7(NRP1):c.2062+9G>A	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3051176	NM_003873.7(NRP1):c.2062+5C>T	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3351383	NM_003873.7(NRP1):c.2046C>G (p.Pro682=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3051571	NM_003873.7(NRP1):c.2040G>A (p.Thr680=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3353577	NM_003873.7(NRP1):c.2039C>T (p.Thr680Met)	NRP1 (T673M +1 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3349949	NM_003873.7(NRP1):c.2017T>G (p.Trp673Gly)	NRP1 (W666G +1 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3354192	NM_003873.7(NRP1):c.2004C>T (p.His668=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3355495	NM_003873.7(NRP1):c.1995T>C (p.His665=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3354888	NM_003873.7(NRP1):c.1952A>C (p.Glu651Ala)	NRP1 (E644A +1 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3029186	NM_003873.7(NRP1):c.1938T>C (p.Tyr646=)	NRP1	Single nucleotide variant (synonymous variant +1 more)	NRP1-related disorder	GLikely benign
Select item 3032284	NM_003873.7(NRP1):c.1925-3A>C	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GUncertain significance
Select item 3353570	NM_003873.7(NRP1):c.1925-5T>C	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3350065	NM_003873.7(NRP1):c.1924+6A>G	NRP1 (K609E +1 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3352147	NM_003873.7(NRP1):c.1906G>A (p.Asp636Asn)	NRP1 (D601N +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3030130	NM_003873.7(NRP1):c.1898C>T (p.Thr633Met)	NRP1 (T598M +2 more)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 2348145	NM_003873.7(NRP1):c.1894C>T (p.Pro632Ser)	NRP1 (P597S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3346571	NM_003873.7(NRP1):c.1865-1G>T	NRP1	Single nucleotide variant (splice acceptor variant)	NRP1-related disorder	GUncertain significance
Select item 3347176	NM_003873.7(NRP1):c.1865-8T>A	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3356600	NM_003873.7(NRP1):c.1864+10C>T	NRP1	Single nucleotide variant (intron variant)	NRP1-related disorder	GLikely benign
Select item 3355087	NM_003873.7(NRP1):c.1854C>G (p.Phe618Leu)	NRP1 (F618L)	Single nucleotide variant (missense variant +1 more)	NRP1-related disorder	GUncertain significance
Select item 3354151	NM_003873.7(NRP1):c.1819C>G (p.Gln607Glu)	NRP1 (Q607E)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 3036295	NM_003873.7(NRP1):c.1815C>T (p.Asp605=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3355151	NM_003873.7(NRP1):c.1809T>G (p.Cys603Trp)	NRP1 (C603W)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 3046453	NM_003873.7(NRP1):c.1800G>A (p.Val600=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3056401	NM_003873.7(NRP1):c.1797G>A (p.Leu599=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3353781	NM_003873.7(NRP1):c.1791G>A (p.Gly597=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3345301	NM_003873.7(NRP1):c.1789G>C (p.Gly597Arg)	NRP1 (G597R)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 2472527	NM_003873.7(NRP1):c.1789G>A (p.Gly597Arg)	NRP1 (G597R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3049138	NM_003873.7(NRP1):c.1788C>T (p.Asn596=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3351134	NM_003873.7(NRP1):c.1776G>A (p.Pro592=)	NRP1	Single nucleotide variant (synonymous variant +2 more)	NRP1-related disorder	GLikely benign
Select item 3352187	NM_003873.7(NRP1):c.1775C>T (p.Pro592Leu)	NRP1 (P592L)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 3058542	NM_003873.7(NRP1):c.1760C>T (p.Ala587Val)	NRP1 (A587V)	Single nucleotide variant (missense variant +2 more)	NRP1-related disorder	GUncertain significance
Select item 2672395	NM_003873.7(NRP1):c.1759+1317G>A	NRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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