7180[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1265884	NM_002430.3(MN1):c.*134dup	MN1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1261235	NM_002430.3(MN1):c.*133dup	MN1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1276500	NM_002430.3(MN1):c.*133T>C	MN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271009	NM_002430.3(MN1):c.*133del	MN1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1699334	NM_002430.3(MN1):c.3953C>A (p.Ala1318Asp)	MN1 (A1318D)	Single nucleotide variant (missense variant)	CEBALID syndrome	GLikely pathogenic
Select item 3343667	NM_002430.3(MN1):c.3943T>C (p.Phe1315Leu)	MN1 (F1315L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376207	NM_002430.3(MN1):c.3919G>A (p.Asp1307Asn)	MN1 (D1307N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 809340	NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	MN1 (W1301*)	Single nucleotide variant (nonsense)	CEBALID syndrome +1 more	GConflicting classifications of pathogenicity
Select item 984651	NM_002430.3(MN1):c.3900del (p.Trp1301fs)	MN1 (W1301fs)	Deletion (frameshift variant)	CEBALID syndrome	GPathogenic
Select item 2228131	NM_002430.3(MN1):c.3898A>G (p.Thr1300Ala)	MN1 (T1300A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 979063	NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs)	MN1 (P1299fs)	Duplication (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
Select item 2374549	NM_002430.3(MN1):c.3892G>A (p.Val1298Met)	MN1 (V1298M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 72912	NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)	MN1 (R1295*)	Single nucleotide variant (nonsense)	CEBALID syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3295409	NM_002430.3(MN1):c.3881C>A (p.Ala1294Asp)	MN1 (A1294D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 812561	NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)	MN1 (A1294*)	Duplication (nonsense)	MN1 C-terminal truncation (MCTT) syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3239061	NM_002430.3(MN1):c.3873C>T (p.Asp1291=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181282	NM_002430.3(MN1):c.3865G>A (p.Val1289Met)	MN1 (V1289M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 979062	NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs)	MN1 (H1284fs)	Indel (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
Select item 3045067	NM_002430.3(MN1):c.3849C>T (p.Val1283=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 812564	NM_002430.3(MN1):c.3846_3849del (p.Val1283fs)	MN1 (V1283fs)	Microsatellite (frameshift variant)	CEBALID syndrome	GPathogenic
Select item 816905	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	MN1 (C1280fs)	Deletion (frameshift variant)	Atrial septal defect +1 more	GUncertain significance
Select item 812563	NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)	MN1 (Q1279*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 2443066	NM_002430.3(MN1):c.3822del (p.Gly1275fs)	MN1 (G1275fs)	Deletion (frameshift variant)	CEBALID syndrome	GLikely pathogenic
Select item 812559	NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)	MN1 (Q1273*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 3295405	NM_002430.3(MN1):c.3815C>T (p.Ser1272Phe)	MN1 (S1272F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443358	NM_002430.3(MN1):c.3794del (p.Pro1265fs)	MN1 (P1265fs)	Deletion (frameshift variant)	CEBALID syndrome	GPathogenic
Select item 978211	NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	MN1 (E1260*)	Single nucleotide variant (nonsense)	CEBALID syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1310033	NM_002430.3(MN1):c.3768del (p.Asn1257fs)	MN1 (N1257fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 812558	NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	MN1 (E1249*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic
Select item 1700233	NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter)	MN1 (W1248*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic/Likely pathogenic
Select item 3181214	NM_002430.3(MN1):c.3739C>G (p.Pro1247Ala)	MN1 (P1247A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475152	NM_002430.3(MN1):c.3739C>T (p.Pro1247Ser)	MN1 (P1247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 979061	NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs)	MN1 (T1244fs)	Insertion (frameshift variant)	MN1 C-terminal truncation (MCTT) syndrome	GLikely pathogenic
Select item 2332223	NM_002430.3(MN1):c.3716C>G (p.Ala1239Gly)	MN1 (A1239G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264388	NM_002430.3(MN1):c.3709del (p.Asp1237fs)	MN1 (D1237fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2228438	NM_002430.3(MN1):c.3683A>G (p.Tyr1228Cys)	MN1 (Y1228C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333278	NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)	MN1 (W1227*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GLikely pathogenic
Select item 1801098	NM_002430.3(MN1):c.3674C>T (p.Ala1225Val)	MN1 (A1225V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805058	NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)	MN1 (E1222V)	Single nucleotide variant (missense variant)	CEBALID syndrome	GUncertain significance
Select item 2820605	NM_002430.3(MN1):c.3634A>C (p.Ser1212Arg)	MN1 (S1212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357365	NM_002430.3(MN1):c.3588C>G (p.Asp1196Glu)	MN1 (D1196E)	Single nucleotide variant (missense variant)	MN1-related disorder	GLikely benign
Select item 2232103	NM_002430.3(MN1):c.3557C>G (p.Ala1186Gly)	MN1 (A1186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027391	NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter)	MN1 (C1185*)	Single nucleotide variant (nonsense)	CEBALID syndrome	GPathogenic
Select item 2653012	NM_002430.3(MN1):c.3550G>C (p.Glu1184Gln)	MN1 (E1184Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553915	NM_002430.3(MN1):c.3544A>G (p.Lys1182Glu)	MN1 (K1182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2259134	NM_002430.3(MN1):c.3534G>T (p.Lys1178Asn)	MN1 (K1178N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343764	NM_002430.3(MN1):c.3480C>G (p.Ile1160Met)	MN1 (I1160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653013	NM_002430.3(MN1):c.3457C>T (p.Leu1153=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1271821	NM_002430.3(MN1):c.3435G>A (p.Pro1145=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2380819	NM_002430.3(MN1):c.3426C>G (p.Ser1142Arg)	MN1 (S1142R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041449	NM_002430.3(MN1):c.3399G>A (p.Glu1133=)	MN1	Single nucleotide variant (synonymous variant)	MN1-related disorder	GLikely benign
Select item 2430556	NM_002430.3(MN1):c.3383G>A (p.Gly1128Asp)	MN1 (G1128D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295407	NM_002430.3(MN1):c.3382G>A (p.Gly1128Ser)	MN1 (G1128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633520	NM_002430.3(MN1):c.3355_3374delinsAGCTA (p.Gly1119_Gly1125delinsSerTyr)	MN1	Indel (inframe_indel)	MN1-related disorder	GUncertain significance
Select item 1311783	NM_002430.3(MN1):c.3374del (p.Gly1125fs)	MN1 (G1125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1298888	NM_002430.3(MN1):c.3371C>T (p.Pro1124Leu)	MN1 (P1124L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2653014	NM_002430.3(MN1):c.3357C>T (p.Gly1119=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530510	NM_002430.3(MN1):c.3332C>G (p.Ser1111Cys)	MN1 (S1111C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311115	NM_002430.3(MN1):c.3305C>T (p.Ala1102Val)	MN1 (A1102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653015	NM_002430.3(MN1):c.3303C>T (p.Pro1101=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653016	NM_002430.3(MN1):c.3300G>T (p.Pro1100=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239231	NM_002430.3(MN1):c.3295C>G (p.Pro1099Ala)	MN1 (P1099A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804409	NM_002430.3(MN1):c.3292G>A (p.Ala1098Thr)	MN1 (A1098T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2269756	NM_002430.3(MN1):c.3283G>A (p.Gly1095Arg)	MN1 (G1095R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497767	NM_002430.3(MN1):c.3274G>T (p.Gly1092Trp)	MN1 (G1092W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998203	NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg)	MN1 (G1092R)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 3180617	NM_002430.3(MN1):c.3254C>T (p.Pro1085Leu)	MN1 (P1085L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180586	NM_002430.3(MN1):c.3251T>G (p.Leu1084Arg)	MN1 (L1084R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675877	NM_002430.3(MN1):c.3238G>C (p.Gly1080Arg)	MN1 (G1080R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3180515	NM_002430.3(MN1):c.3160G>A (p.Ala1054Thr)	MN1 (A1054T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180483	NM_002430.3(MN1):c.3141C>A (p.Asp1047Glu)	MN1 (D1047E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298566	NM_002430.3(MN1):c.3113C>T (p.Ser1038Leu)	MN1 (S1038L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311566	NM_002430.3(MN1):c.3104A>T (p.Asp1035Val)	MN1 (D1035V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653017	NM_002430.3(MN1):c.3084G>A (p.Leu1028=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689436	NM_002430.3(MN1):c.3077G>A (p.Gly1026Glu)	MN1 (G1026E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295412	NM_002430.3(MN1):c.3074T>C (p.Ile1025Thr)	MN1 (I1025T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337291	NM_002430.3(MN1):c.3068A>G (p.Asp1023Gly)	MN1 (D1023G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630892	NM_002430.3(MN1):c.3064C>T (p.Pro1022Ser)	MN1 (P1022S)	Single nucleotide variant (missense variant)	MN1-related disorder	GUncertain significance
Select item 3063882	NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)	MN1 (L1016F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580620	NM_002430.3(MN1):c.3020C>T (p.Ser1007Leu)	MN1 (S1007L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984611	NM_002430.3(MN1):c.2986G>C (p.Gly996Arg)	MN1 (G996R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 2573952	NM_002430.3(MN1):c.2983C>A (p.Arg995Ser)	MN1 (R995S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180362	NM_002430.3(MN1):c.2882A>G (p.Lys961Arg)	MN1 (K961R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257544	NM_002430.3(MN1):c.2876T>C (p.Phe959Ser)	MN1 (F959S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295406	NM_002430.3(MN1):c.2867G>T (p.Gly956Val)	MN1 (G956V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295410	NM_002430.3(MN1):c.2838A>T (p.Arg946Ser)	MN1 (R946S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653018	NM_002430.3(MN1):c.2817C>T (p.Gly939=)	MN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662543	NM_002430.3(MN1):c.2813G>A (p.Gly938Asp)	MN1 (G938D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502422	NM_002430.3(MN1):c.2803G>A (p.Val935Ile)	MN1 (V935I)	Single nucleotide variant (missense variant)	See cases	GUncertain significance

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