INPP5B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1282525	NM_005540.3(INPP5B):c.50_51del	INPP5B	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243712	NM_005540.3(INPP5B):c.*5C>A	INPP5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3109827	NM_005540.3(INPP5B):c.2699A>C (p.Lys900Thr)	INPP5B (K680T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109826	NM_005540.3(INPP5B):c.2698A>G (p.Lys900Glu)	INPP5B (K835E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109825	NM_005540.3(INPP5B):c.2668C>T (p.His890Tyr)	INPP5B (H670Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1273167	NM_005540.3(INPP5B):c.2627-52C>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228281	NM_005540.3(INPP5B):c.2627-58GT[2]	INPP5B	Microsatellite (intron variant)	not provided	GBenign
Select item 1258634	NM_005540.3(INPP5B):c.2611G>C (p.Asp871His)	INPP5B (D651H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2230940	NM_005540.3(INPP5B):c.2576G>A (p.Arg859Gln)	INPP5B (R695Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2233536	NM_005540.3(INPP5B):c.2554C>T (p.His852Tyr)	INPP5B (H787Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109824	NM_005540.3(INPP5B):c.2533A>C (p.Ile845Leu)	INPP5B (I625L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301686	NM_005540.3(INPP5B):c.2482G>A (p.Glu828Lys)	INPP5B, LOC126805707 (E664K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367346	NM_005540.3(INPP5B):c.2452A>G (p.Ile818Val)	INPP5B, LOC126805707 (I796V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109821	NM_005540.3(INPP5B):c.2389G>T (p.Ala797Ser)	INPP5B, LOC126805707 (A577S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241930	NM_005540.3(INPP5B):c.2387-239G>C	INPP5B, LOC126805707	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291724	NM_005540.3(INPP5B):c.2386+52GA[13]	INPP5B, LOC126805707	Microsatellite (intron variant)	not provided	GBenign
Select item 1287897	NM_005540.3(INPP5B):c.2386+52GA[12]	INPP5B, LOC126805707	Microsatellite (intron variant)	not provided	GBenign
Select item 1230805	NM_005540.3(INPP5B):c.2386+52GA[15]	INPP5B, LOC126805707	Microsatellite (intron variant)	not provided	GBenign
Select item 1281996	NM_005540.3(INPP5B):c.2386+47_2386+56del	INPP5B, LOC126805707	Deletion (intron variant)	not provided	GBenign
Select item 1242876	NM_005540.3(INPP5B):c.2386+49_2386+56del	INPP5B, LOC126805707	Deletion (intron variant)	not provided	GBenign
Select item 3109820	NM_005540.3(INPP5B):c.2377G>A (p.Asp793Asn)	INPP5B, LOC126805707 (D629N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109819	NM_005540.3(INPP5B):c.2319A>T (p.Gln773His)	INPP5B (Q609H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1270287	NM_005540.3(INPP5B):c.2302-123dup	INPP5B	Duplication (intron variant)	not provided	GBenign
Select item 1253889	NM_005540.3(INPP5B):c.2301+168dup	INPP5B	Duplication (intron variant)	not provided	GBenign
Select item 2371176	NM_005540.3(INPP5B):c.2281T>C (p.Tyr761His)	INPP5B (Y642H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362036	NM_005540.3(INPP5B):c.2203T>A (p.Trp735Arg)	INPP5B (W515R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1253577	NM_005540.3(INPP5B):c.2188-31A>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272012	NM_005540.3(INPP5B):c.2188-32G>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2337716	NM_005540.3(INPP5B):c.2140A>G (p.Met714Val)	INPP5B (M550V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205260	NM_005540.3(INPP5B):c.2126A>C (p.His709Pro)	INPP5B (H590P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109818	NM_005540.3(INPP5B):c.2044G>A (p.Val682Ile)	INPP5B (V462I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109817	NM_005540.3(INPP5B):c.2029A>T (p.Ile677Phe)	INPP5B (I655F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258444	NM_005540.3(INPP5B):c.1994T>C (p.Met665Thr)	INPP5B (M445T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2524081	NM_005540.3(INPP5B):c.1961T>C (p.Val654Ala)	INPP5B (V434A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1181721	NM_005540.3(INPP5B):c.1952-176_1952-175insT	INPP5B	Insertion (intron variant)	not provided	GBenign
Select item 1249940	NM_005540.3(INPP5B):c.1951+6G>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3109816	NM_005540.3(INPP5B):c.1843C>T (p.His615Tyr)	INPP5B (H395Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109815	NM_005540.3(INPP5B):c.1775T>G (p.Leu592Arg)	INPP5B (L372R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396302	NM_005540.3(INPP5B):c.1768G>C (p.Val590Leu)	INPP5B (V471L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587991	NM_005540.3(INPP5B):c.1693G>A (p.Asp565Asn)	INPP5B (D345N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1252988	NM_005540.3(INPP5B):c.1678-130C>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271476	NM_005540.3(INPP5B):c.1678-228G>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034865	NM_005540.3(INPP5B):c.1674C>T (p.Ile558=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	INPP5B-related disorder	GLikely benign
Select item 3109814	NM_005540.3(INPP5B):c.1601C>T (p.Thr534Ile)	INPP5B (T469I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109813	NM_005540.3(INPP5B):c.1517C>T (p.Thr506Met)	INPP5B (T387M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258194	NM_005540.3(INPP5B):c.1432-30T>G	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283239	NM_005540.3(INPP5B):c.1404C>T (p.Asp468=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3109811	NM_005540.3(INPP5B):c.1402G>A (p.Asp468Asn)	INPP5B (D248N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109810	NM_005540.3(INPP5B):c.1313A>G (p.Asn438Ser)	INPP5B (N436S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286085	NM_005540.3(INPP5B):c.1298C>T (p.Pro433Leu)	INPP5B (P213L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410790	NM_005540.3(INPP5B):c.1268A>G (p.Gln423Arg)	INPP5B (Q304R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216330	NM_005540.3(INPP5B):c.1213A>G (p.Ile405Val)	INPP5B (I185V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484827	NM_005540.3(INPP5B):c.1186G>A (p.Val396Ile)	INPP5B (V396I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109808	NM_005540.3(INPP5B):c.1147G>A (p.Val383Met)	INPP5B (V163M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332551	NM_005540.3(INPP5B):c.1099G>A (p.Glu367Lys)	INPP5B (E147K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035807	NM_005540.3(INPP5B):c.1098C>T (p.Ala366=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	INPP5B-related disorder	GLikely benign
Select item 3109807	NM_005540.3(INPP5B):c.1076C>T (p.Ala359Val)	INPP5B (A139V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1269248	NM_005540.3(INPP5B):c.1015-173C>G	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3109833	NM_005540.3(INPP5B):c.966G>T (p.Trp322Cys)	INPP5B (W257C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039118	NM_005540.3(INPP5B):c.963G>A (p.Glu321=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	INPP5B-related disorder	GLikely benign
Select item 2532651	NM_005540.3(INPP5B):c.875A>C (p.Gln292Pro)	INPP5B (Q128P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056078	NM_005540.3(INPP5B):c.873C>A (p.Ile291=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	INPP5B-related disorder	GBenign
Select item 3286090	NM_005540.3(INPP5B):c.805G>A (p.Ala269Thr)	INPP5B (A49T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1294779	NM_005540.3(INPP5B):c.798-230C>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250686	NM_005540.3(INPP5B):c.797+126C>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045072	NM_005540.3(INPP5B):c.756A>G (p.Leu252=)	INPP5B	Single nucleotide variant (synonymous variant +1 more)	INPP5B-related disorder	GLikely benign
Select item 3286086	NM_005540.3(INPP5B):c.714G>A (p.Met238Ile)	INPP5B (M18I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212729	NM_005540.3(INPP5B):c.714G>T (p.Met238Ile)	INPP5B (M119I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109832	NM_005540.3(INPP5B):c.682A>G (p.Thr228Ala)	INPP5B (T109A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286087	NM_005540.3(INPP5B):c.668G>A (p.Arg223His)	INPP5B (R158H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109831	NM_005540.3(INPP5B):c.649G>A (p.Glu217Lys)	INPP5B (E195K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1239537	NM_005540.3(INPP5B):c.630-124T>C	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294785	NM_005540.3(INPP5B):c.629+160C>G	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233128	NM_005540.3(INPP5B):c.629+116dup	INPP5B	Duplication (intron variant)	not provided	GBenign
Select item 3109830	NM_005540.3(INPP5B):c.613G>C (p.Glu205Gln)	INPP5B (E205Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339679	NM_005540.3(INPP5B):c.541A>G (p.Asn181Asp)	INPP5B (N159D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109829	NM_005540.3(INPP5B):c.539C>T (p.Ser180Phe)	INPP5B (S16F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1249962	NM_005540.3(INPP5B):c.532+216G>A	INPP5B, LOC129930172 (G6S)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 3040409	NM_005540.3(INPP5B):c.532+215C>T	INPP5B, LOC129930172	Single nucleotide variant (synonymous variant +3 more)	INPP5B-related disorder	GBenign
Select item 3055357	NM_005540.3(INPP5B):c.532+213G>T	INPP5B, LOC129930172 (A5S)	Single nucleotide variant (missense variant +3 more)	INPP5B-related disorder	GBenign
Select item 1280776	NM_005540.3(INPP5B):c.532+61G>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044345	NM_005540.3(INPP5B):c.486dup (p.Asn163Ter)	INPP5B (N141* +4 more)	Duplication (5 prime UTR variant +2 more)	INPP5B-related disorder	GLikely benign
Select item 2516752	NM_005540.3(INPP5B):c.457G>A (p.Glu153Lys)	INPP5B (E151K +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2345799	NM_005540.3(INPP5B):c.407C>T (p.Thr136Ile)	INPP5B (T17I +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1251428	NM_005540.3(INPP5B):c.392-96G>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264413	NM_005540.3(INPP5B):c.392-103_392-101del	INPP5B	Deletion (intron variant)	not provided	GBenign
Select item 1222561	NM_005540.3(INPP5B):c.392-112_392-108del	INPP5B	Deletion (intron variant)	not provided	GBenign
Select item 2638682	NM_005540.3(INPP5B):c.369C>T (p.His123=)	INPP5B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2569661	NM_005540.3(INPP5B):c.295G>A (p.Val99Ile)	INPP5B (V99I +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1234485	NM_005540.3(INPP5B):c.281-156T>C	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294778	NM_005540.3(INPP5B):c.280+209C>G	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279864	NM_005540.3(INPP5B):c.280+200A>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048120	NM_005540.3(INPP5B):c.275T>A (p.Ile92Asn)	INPP5B (I70N +1 more)	Single nucleotide variant (missense variant +2 more)	INPP5B-related disorder	GBenign
Select item 1228949	NM_005540.3(INPP5B):c.251-54G>A	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3109822	NM_005540.3(INPP5B):c.239C>T (p.Thr80Met)	INPP5B (T80M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457629	NM_005540.3(INPP5B):c.227C>T (p.Ser76Leu)	INPP5B (S76L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2283757	NM_005540.3(INPP5B):c.185T>C (p.Ile62Thr)	INPP5B (I62T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1239640	NM_005540.3(INPP5B):c.153-51C>T	INPP5B	Single nucleotide variant (intron variant)	not provided	GBenign

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