ClinVar for Gene (Select 3636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378174	NM_001567.4(INPPL1):c.1577G>T (p.Ser526Ile)	INPPL1 (S526I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362516	NM_001567.4(INPPL1):c.1945C>T (p.Arg649Ter)	INPPL1 (R649*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GLikely pathogenic
Select item 3355519	NM_001567.4(INPPL1):c.1239C>T (p.Asn413=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3286129	NM_001567.4(INPPL1):c.3733G>A (p.Ala1245Thr)	INPPL1 (A1245T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286128	NM_001567.4(INPPL1):c.260T>C (p.Val87Ala)	INPPL1 (V87A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286127	NM_001567.4(INPPL1):c.1427T>C (p.Val476Ala)	INPPL1 (V476A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286125	NM_001567.4(INPPL1):c.2627C>T (p.Thr876Met)	INPPL1 (T876M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244742	NC_000011.9:g.(?_71946389)_(71948539_?)del	INPPL1	Deletion	not provided	GPathogenic
Select item 3244741	NC_000011.9:g.(?_71935411)_(71943899_?)del	INPPL1	Deletion	not provided	GPathogenic
Select item 3234870	NM_001567.4(INPPL1):c.3461C>G (p.Pro1154Arg)	INPPL1 (P1154R)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 3234869	NM_001567.4(INPPL1):c.1497+5G>C	INPPL1	Single nucleotide variant (intron variant)	Opsismodysplasia	GUncertain significance
Select item 3109881	NM_001567.4(INPPL1):c.923C>T (p.Pro308Leu)	INPPL1 (P308L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109880	NM_001567.4(INPPL1):c.922C>G (p.Pro308Ala)	INPPL1 (P308A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109879	NM_001567.4(INPPL1):c.734C>T (p.Thr245Ile)	INPPL1 (T245I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109878	NM_001567.4(INPPL1):c.641C>T (p.Ser214Leu)	INPPL1 (S214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109877	NM_001567.4(INPPL1):c.3523G>A (p.Glu1175Lys)	INPPL1 (E1175K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109876	NM_001567.4(INPPL1):c.334G>A (p.Ala112Thr)	INPPL1 (A112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109875	NM_001567.4(INPPL1):c.3254C>G (p.Ala1085Gly)	INPPL1 (A1085G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109874	NM_001567.4(INPPL1):c.3104G>A (p.Gly1035Glu)	INPPL1 (G1035E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109873	NM_001567.4(INPPL1):c.3068C>T (p.Ala1023Val)	INPPL1 (A1023V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109872	NM_001567.4(INPPL1):c.2759C>T (p.Ala920Val)	INPPL1 (A920V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109871	NM_001567.4(INPPL1):c.2315C>T (p.Thr772Ile)	INPPL1 (T772I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109870	NM_001567.4(INPPL1):c.2072G>A (p.Arg691Gln)	INPPL1 (R691Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109869	NM_001567.4(INPPL1):c.2054T>C (p.Val685Ala)	INPPL1 (V685A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109868	NM_001567.4(INPPL1):c.2003G>A (p.Arg668Gln)	INPPL1 (R668Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109866	NM_001567.4(INPPL1):c.1436G>A (p.Arg479His)	INPPL1 (R479H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109865	NM_001567.4(INPPL1):c.1196G>A (p.Arg399Gln)	INPPL1 (R399Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058675	NM_001567.4(INPPL1):c.3480G>A (p.Ser1160=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3036603	NM_001567.4(INPPL1):c.1257C>T (p.Asp419=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3031613	NM_001567.4(INPPL1):c.1398C>A (p.Ile466=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3031115	NM_001567.4(INPPL1):c.1083C>T (p.His361=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3023685	NM_001567.4(INPPL1):c.3708G>A (p.Leu1236=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022876	NM_001567.4(INPPL1):c.1047G>A (p.Gln349=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022285	NM_001567.4(INPPL1):c.1071C>T (p.Thr357=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021748	NM_001567.4(INPPL1):c.318C>T (p.Asn106=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020044	NM_001567.4(INPPL1):c.2979G>A (p.Pro993=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017863	NM_001567.4(INPPL1):c.429G>A (p.Pro143=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016845	NM_001567.4(INPPL1):c.1615+14G>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016669	NM_001567.4(INPPL1):c.2123-10C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016050	NM_001567.4(INPPL1):c.3417G>A (p.Gly1139=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014683	NM_001567.4(INPPL1):c.2040+15C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012833	NM_001567.4(INPPL1):c.2880-20C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011904	NM_001567.4(INPPL1):c.3078T>C (p.Leu1026=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011424	NM_001567.4(INPPL1):c.3480G>T (p.Ser1160=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003096	NM_001567.4(INPPL1):c.3759C>G (p.Thr1253=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999557	NM_001567.4(INPPL1):c.2739-9C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998974	NM_001567.4(INPPL1):c.3006C>T (p.Pro1002=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996151	NM_001567.4(INPPL1):c.3617G>A (p.Arg1206Gln)	INPPL1 (R1206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984162	NM_001567.4(INPPL1):c.408T>C (p.Asp136=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983740	NM_001567.4(INPPL1):c.2738+9G>A	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981010	NM_001567.4(INPPL1):c.1713-17C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976568	NM_001567.4(INPPL1):c.1683C>T (p.His561=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971181	NM_001567.4(INPPL1):c.2421A>G (p.Lys807=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967469	NM_001567.4(INPPL1):c.1323C>T (p.Asn441=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963101	NM_001567.4(INPPL1):c.1852-11C>G	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962755	NM_001567.4(INPPL1):c.2213-6C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956252	NM_001567.4(INPPL1):c.1893C>T (p.Leu631=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955926	NM_001567.4(INPPL1):c.183-19G>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921100	NM_001567.4(INPPL1):c.1012G>T (p.Val338Leu)	INPPL1 (V338L)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2916210	NM_001567.4(INPPL1):c.3490C>T (p.Arg1164Trp)	INPPL1 (R1164W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915873	NM_001567.4(INPPL1):c.1503C>G (p.Ala501=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908884	NM_001567.4(INPPL1):c.2439C>T (p.Ile813=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908718	NM_001567.4(INPPL1):c.297C>T (p.Ile99=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907944	NM_001567.4(INPPL1):c.1198-7C>A	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904455	NM_001567.4(INPPL1):c.843+7T>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895140	NM_001567.4(INPPL1):c.2604C>G (p.Gly868=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892982	NM_001567.4(INPPL1):c.1497+11dup	INPPL1	Duplication (intron variant)	not provided	GBenign
Select item 2892727	NM_001567.4(INPPL1):c.2259C>T (p.Ile753=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891775	NM_001567.4(INPPL1):c.518+9C>G	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877068	NM_001567.4(INPPL1):c.2772C>T (p.Ala924=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876668	NM_001567.4(INPPL1):c.1301-20C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873834	NM_001567.4(INPPL1):c.1300+12G>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872675	NM_001567.4(INPPL1):c.397+8C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854798	NM_001567.4(INPPL1):c.3659A>G (p.Asn1220Ser)	INPPL1 (N1220S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851421	NM_001567.4(INPPL1):c.1920G>A (p.Glu640=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837626	NM_001567.4(INPPL1):c.879A>G (p.Ala293=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835597	NM_001567.4(INPPL1):c.527A>G (p.Asn176Ser)	INPPL1 (N176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833731	NM_001567.4(INPPL1):c.3444C>T (p.Gly1148=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833274	NM_001567.4(INPPL1):c.921C>T (p.Ile307=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809541	NM_001567.4(INPPL1):c.2213-189_2270del	INPPL1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2805925	NM_001567.4(INPPL1):c.2073G>T (p.Arg691=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804790	NM_001567.4(INPPL1):c.3009G>C (p.Ser1003=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799093	NM_001567.4(INPPL1):c.2541C>T (p.Ser847=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794298	NM_001567.4(INPPL1):c.1785C>A (p.Ile595=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794297	NM_001567.4(INPPL1):c.1300+10G>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785058	NM_001567.4(INPPL1):c.3047A>G (p.Lys1016Arg)	INPPL1 (K1016R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782479	NM_001567.4(INPPL1):c.3385_3386insGCTGCTGCAGATGGCCAAGA (p.Thr1129fs)	INPPL1 (T1129fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2780069	NM_001567.4(INPPL1):c.33G>A (p.Gly11=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778609	NM_001567.4(INPPL1):c.1090+20G>C	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759192	NM_001567.4(INPPL1):c.2808G>A (p.Glu936=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749056	NM_001567.4(INPPL1):c.1872C>T (p.Ser624=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736451	NM_001567.4(INPPL1):c.1198-3del	INPPL1	Deletion (intron variant)	not provided	GBenign
Select item 2725698	NM_001567.4(INPPL1):c.246+7del	INPPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2725637	NM_001567.4(INPPL1):c.398-12C>T	INPPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720557	NM_001567.4(INPPL1):c.306C>T (p.Tyr102=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713410	NM_001567.4(INPPL1):c.3222G>C (p.Gly1074=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701913	NM_001567.4(INPPL1):c.3453G>A (p.Glu1151=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687875	NM_001567.4(INPPL1):c.1397T>A (p.Ile466Asn)	INPPL1 (I466N)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2618267	NM_001567.4(INPPL1):c.3080G>A (p.Gly1027Glu)	INPPL1 (G1027E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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