23524[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 154703	GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1	ELOB, ERVK13-1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 3170117	NM_016333.4(SRRM2):c.23C>T (p.Pro8Leu)	SRRM2 (P8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333020	NM_016333.4(SRRM2):c.58C>T (p.Gln20Ter)	SRRM2 (Q20*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2611971	NM_016333.4(SRRM2):c.76G>C (p.Val26Leu)	SRRM2 (V26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374852	NM_016333.4(SRRM2):c.79C>T (p.Arg27Trp)	SRRM2 (R27W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317369	NM_016333.4(SRRM2):c.79C>G (p.Arg27Gly)	SRRM2 (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268772	NM_016333.4(SRRM2):c.86G>T (p.Arg29Leu)	SRRM2 (R29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170196	NM_016333.4(SRRM2):c.97C>T (p.Arg33Trp)	SRRM2 (R33W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2785579	NM_016333.4(SRRM2):c.136G>T (p.Glu46Ter)	SRRM2 (E46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2576799	NM_016333.4(SRRM2):c.160A>T (p.Asn54Tyr)	SRRM2 (N54Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608901	NM_016333.4(SRRM2):c.163C>G (p.Pro55Ala)	SRRM2 (P55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603348	NM_016333.4(SRRM2):c.196G>A (p.Val66Ile)	SRRM2 (V66I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580552	NM_016333.4(SRRM2):c.284G>A (p.Arg95Gln)	SRRM2 (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245883	NM_016333.4(SRRM2):c.317G>A (p.Gly106Glu)	LOC126862261, SRRM2 (G106E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773053	NM_016333.4(SRRM2):c.327G>A (p.Glu109=)	LOC126862261, SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631589	NM_016333.4(SRRM2):c.339_340dup (p.Gln114fs)	LOC126862261, SRRM2 (Q114fs)	Duplication (frameshift variant)	SRRM2-related disorder	GLikely pathogenic
Select item 2222294	NM_016333.4(SRRM2):c.436G>A (p.Val146Ile)	LOC126862261, SRRM2 (V146I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308519	NM_016333.4(SRRM2):c.449C>T (p.Ser150Phe)	LOC126862261, SRRM2 (S150F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170142	NM_016333.4(SRRM2):c.467G>A (p.Arg156His)	LOC126862261, SRRM2 (R156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734429	NM_016333.4(SRRM2):c.468T>C (p.Arg156=)	LOC126862261, SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170146	NM_016333.4(SRRM2):c.488C>T (p.Pro163Leu)	LOC126862261, SRRM2 (P163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273475	NM_016333.4(SRRM2):c.499C>G (p.Pro167Ala)	LOC126862261, SRRM2 (P167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170152	NM_016333.4(SRRM2):c.509C>A (p.Pro170His)	LOC126862261, SRRM2 (P170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580809	NM_016333.4(SRRM2):c.608G>C (p.Ser203Thr)	SRRM2 (S203T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2357999	NM_016333.4(SRRM2):c.649A>C (p.Lys217Gln)	SRRM2 (K217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170174	NM_016333.4(SRRM2):c.654C>G (p.His218Gln)	SRRM2 (H218Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572000	NM_016333.4(SRRM2):c.679C>T (p.Arg227Cys)	SRRM2 (R227C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411772	NM_016333.4(SRRM2):c.772C>T (p.Arg258Cys)	SRRM2 (R258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170187	NM_016333.4(SRRM2):c.775C>T (p.Arg259Trp)	SRRM2 (R259W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782012	NM_016333.4(SRRM2):c.794CTG[1] (p.Ala266del)	SRRM2 (A266del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2443549	NM_016333.4(SRRM2):c.812C>G (p.Ser271Cys)	SRRM2 (S271C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735445	NM_016333.4(SRRM2):c.816C>T (p.Ser272=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247853	NM_016333.4(SRRM2):c.817G>A (p.Asp273Asn)	SRRM2 (D273N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206443	NM_016333.4(SRRM2):c.863C>T (p.Thr288Ile)	SRRM2 (T288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555020	NM_016333.4(SRRM2):c.902G>A (p.Gly301Glu)	SRRM2 (G301E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531461	NM_016333.4(SRRM2):c.923C>T (p.Ala308Val)	SRRM2 (A308V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646066	NM_016333.4(SRRM2):c.924G>A (p.Ala308=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516314	NM_016333.4(SRRM2):c.926C>T (p.Pro309Leu)	SRRM2 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716456	NM_016333.4(SRRM2):c.931A>G (p.Ser311Gly)	SRRM2 (S311G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3170195	NM_016333.4(SRRM2):c.943A>G (p.Thr315Ala)	SRRM2 (T315A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2535019	NM_016333.4(SRRM2):c.952A>G (p.Thr318Ala)	SRRM2 (T318A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050567	NM_016333.4(SRRM2):c.986A>G (p.Lys329Arg)	SRRM2 (K329R)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GLikely benign
Select item 783728	NM_016333.4(SRRM2):c.991C>T (p.Pro331Ser)	SRRM2 (P331S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2277639	NM_016333.4(SRRM2):c.992C>T (p.Pro331Leu)	SRRM2 (P331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787683	NM_016333.4(SRRM2):c.1001C>T (p.Pro334Leu)	SRRM2 (P334L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2646067	NM_016333.4(SRRM2):c.1015G>A (p.Asp339Asn)	SRRM2 (D339N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3170099	NM_016333.4(SRRM2):c.1022A>C (p.Asp341Ala)	SRRM2 (D341A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686338	NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe)	SRRM2 (S346F)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2475088	NM_016333.4(SRRM2):c.1051A>G (p.Ser351Gly)	SRRM2 (S351G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170100	NM_016333.4(SRRM2):c.1054C>T (p.Pro352Ser)	SRRM2 (P352S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343407	NM_016333.4(SRRM2):c.1060C>G (p.Pro354Ala)	SRRM2 (P354A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247757	NM_016333.4(SRRM2):c.1075A>G (p.Thr359Ala)	SRRM2 (T359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309168	NM_016333.4(SRRM2):c.1108C>G (p.Leu370Val)	SRRM2 (L370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264521	NM_016333.4(SRRM2):c.1118G>A (p.Arg373Gln)	SRRM2 (R373Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2498643	NM_016333.4(SRRM2):c.1125C>T (p.Gly375=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170101	NM_016333.4(SRRM2):c.1165G>C (p.Glu389Gln)	SRRM2 (E389Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262489	NM_016333.4(SRRM2):c.1171G>A (p.Val391Met)	SRRM2 (V391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064119	NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)	SRRM2 (S395fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 2284836	NM_016333.4(SRRM2):c.1189G>A (p.Ala397Thr)	SRRM2 (A397T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295460	NM_016333.4(SRRM2):c.1190C>T (p.Ala397Val)	SRRM2 (A397V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032062	NM_016333.4(SRRM2):c.1195C>T (p.Pro399Ser)	SRRM2 (P399S)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GLikely benign
Select item 2319675	NM_016333.4(SRRM2):c.1214C>T (p.Pro405Leu)	SRRM2 (P405L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230313	NM_016333.4(SRRM2):c.1241A>G (p.Gln414Arg)	SRRM2 (Q414R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222863	NM_016333.4(SRRM2):c.1242G>T (p.Gln414His)	SRRM2 (Q414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646068	NM_016333.4(SRRM2):c.1282A>G (p.Thr428Ala)	SRRM2 (T428A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3170103	NM_016333.4(SRRM2):c.1285A>G (p.Lys429Glu)	SRRM2 (K429E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170104	NM_016333.4(SRRM2):c.1294C>T (p.Arg432Trp)	SRRM2 (R432W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783729	NM_016333.4(SRRM2):c.1304G>C (p.Ser435Thr)	SRRM2 (S435T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 984560	NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe)	SRRM2 (S437F)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 2510680	NM_016333.4(SRRM2):c.1436G>A (p.Arg479His)	SRRM2 (R479H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170105	NM_016333.4(SRRM2):c.1441A>T (p.Met481Leu)	SRRM2 (M481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636913	NM_016333.4(SRRM2):c.1495A>G (p.Thr499Ala)	SRRM2 (T499A)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GUncertain significance
Select item 2591963	NM_016333.4(SRRM2):c.1541G>A (p.Arg514His)	SRRM2 (R514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170106	NM_016333.4(SRRM2):c.1646A>G (p.Gln549Arg)	SRRM2 (Q549R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2661948	NM_016333.4(SRRM2):c.1651A>G (p.Arg551Gly)	SRRM2 (R551G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871345	NM_016333.4(SRRM2):c.1679G>A (p.Gly560Glu)	SRRM2 (G560E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377703	NM_016333.4(SRRM2):c.1715G>A (p.Arg572Lys)	SRRM2 (R572K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461167	NM_016333.4(SRRM2):c.1721G>A (p.Arg574His)	SRRM2 (R574H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170107	NM_016333.4(SRRM2):c.1734_1766del (p.571GRSRSRTPARR[1])	SRRM2	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2526128	NM_016333.4(SRRM2):c.1739G>A (p.Arg580His)	SRRM2 (R580H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170108	NM_016333.4(SRRM2):c.1769C>T (p.Ala590Val)	SRRM2 (A590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223617	NM_016333.4(SRRM2):c.1774C>T (p.Arg592Trp)	SRRM2 (R592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205435	NM_016333.4(SRRM2):c.1784G>A (p.Arg595Gln)	SRRM2 (R595Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395559	NM_016333.4(SRRM2):c.1795C>T (p.Pro599Ser)	SRRM2 (P599S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459436	NM_016333.4(SRRM2):c.1796C>T (p.Pro599Leu)	SRRM2 (P599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614014	NM_016333.4(SRRM2):c.1832G>A (p.Arg611Gln)	SRRM2 (R611Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524068	NM_016333.4(SRRM2):c.1846C>T (p.Arg616Trp)	SRRM2 (R616W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466919	NM_016333.4(SRRM2):c.1868G>A (p.Arg623His)	SRRM2 (R623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170109	NM_016333.4(SRRM2):c.1870A>G (p.Arg624Gly)	SRRM2 (R624G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333016	NM_016333.4(SRRM2):c.1882C>T (p.Arg628Ter)	SRRM2 (R628*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic

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