2122[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 3031347	NM_004991.4(MECOM):c.*1C>A	MECOM	Single nucleotide variant (3 prime UTR variant)	MECOM-related disorder	GLikely benign
Select item 782811	NM_004991.4(MECOM):c.3717A>G (p.Val1239=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869204	NM_004991.4(MECOM):c.3715G>A (p.Val1239Ile)	MECOM (V1043I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338059	NM_004991.4(MECOM):c.3683C>T (p.Ala1228Val)	MECOM (A1031V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2786771	NM_004991.4(MECOM):c.3681G>A (p.Ala1227=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083437	NM_004991.4(MECOM):c.3680C>T (p.Ala1227Val)	MECOM (A1031V +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1337672	NM_004991.4(MECOM):c.3680C>A (p.Ala1227Glu)	MECOM (A1030E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792983	NM_004991.4(MECOM):c.3662A>T (p.His1221Leu)	MECOM (H1034L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600542	NM_004991.4(MECOM):c.3655G>C (p.Val1219Leu)	MECOM (V1023L +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2533815	NM_004991.4(MECOM):c.3655G>T (p.Val1219Leu)	MECOM (V1031L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1971911	NM_004991.4(MECOM):c.3655G>A (p.Val1219Met)	MECOM (V1219M +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867499	NM_004991.4(MECOM):c.3653A>G (p.Asn1218Ser)	MECOM (N1030S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786024	NM_004991.4(MECOM):c.3636A>C (p.Thr1212=)	MECOM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1707922	NM_004991.4(MECOM):c.3635C>T (p.Thr1212Ile)	MECOM (T1015I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783359	NM_004991.4(MECOM):c.3619G>C (p.Glu1207Gln)	MECOM (E1011Q +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3124836	NM_004991.4(MECOM):c.3601C>A (p.Leu1201Met)	MECOM (L1004M +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179941	NM_004991.4(MECOM):c.3600_3601delinsTA (p.Met1200_Leu1201delinsIleMet)	MECOM	Indel (missense variant)	not provided	GUncertain significance
Select item 2907763	NM_004991.4(MECOM):c.3591T>C (p.Tyr1197=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800814	NM_004991.4(MECOM):c.3586-1G>C	MECOM	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2071552	NM_004991.4(MECOM):c.3586-13C>T	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017398	NM_004991.4(MECOM):c.3585+12C>G	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752445	NM_004991.4(MECOM):c.3585+8T>G	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874341	NM_004991.4(MECOM):c.3585+7A>C	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634764	NM_004991.4(MECOM):c.3585+3A>G	MECOM	Single nucleotide variant (intron variant)	MECOM-related disorder +1 more	GUncertain significance
Select item 2894809	NM_004991.4(MECOM):c.3584A>G (p.Gln1195Arg)	MECOM (Q862R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608205	NM_004991.4(MECOM):c.3581C>T (p.Ser1194Leu)	MECOM (S1006L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336690	NM_004991.4(MECOM):c.3570A>G (p.Arg1190=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2214790	NM_004991.4(MECOM):c.3565C>T (p.His1189Tyr)	MECOM (H668Y +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2913796	NM_004991.4(MECOM):c.3561G>A (p.Pro1187=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1980545	NM_004991.4(MECOM):c.3560C>T (p.Pro1187Leu)	MECOM (P1187L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019201	NM_004991.4(MECOM):c.3538G>A (p.Val1180Met)	MECOM (V1057M +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072972	NM_004991.4(MECOM):c.3537T>C (p.His1179=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036449	NM_004991.4(MECOM):c.3513G>A (p.Glu1171=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872575	NM_004991.4(MECOM):c.3510T>C (p.Ala1170=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787580	NM_004991.4(MECOM):c.3504T>G (p.Ser1168=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725665	NM_004991.4(MECOM):c.3496C>A (p.Gln1166Lys)	MECOM (Q1043K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3124835	NM_004991.4(MECOM):c.3493A>C (p.Asn1165His)	MECOM (N1156H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124834	NM_004991.4(MECOM):c.3473A>G (p.Lys1158Arg)	MECOM (K1035R +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632677	NM_004991.4(MECOM):c.3458T>G (p.Phe1153Cys)	MECOM (F1030C +8 more)	Single nucleotide variant (missense variant)	MECOM-related disorder	GUncertain significance
Select item 2891339	NM_004991.4(MECOM):c.3452G>A (p.Arg1151Lys)	MECOM (R630K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079139	NM_004991.4(MECOM):c.3448A>G (p.Ile1150Val)	MECOM (I629V +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1338063	NM_004991.4(MECOM):c.3446A>G (p.His1149Arg)	MECOM (H1026R +8 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2876269	NM_004991.4(MECOM):c.3430C>G (p.Leu1144Val)	MECOM (L1135V +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025659	NM_004991.4(MECOM):c.3420T>C (p.Tyr1140=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717727	NM_004991.4(MECOM):c.3412G>A (p.Glu1138Lys)	MECOM (E1015K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869274	NM_004991.4(MECOM):c.3402-4T>C	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867974	NM_004991.4(MECOM):c.3402-15G>C	MECOM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1970926	NM_004991.4(MECOM):c.3402-16C>T	MECOM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2802630	NM_004991.4(MECOM):c.3394C>T (p.Pro1132Ser)	MECOM (P1009S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802350	NM_004991.4(MECOM):c.3392C>T (p.Ser1131Phe)	MECOM (S1122F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077252	NM_004991.4(MECOM):c.3383G>A (p.Cys1128Tyr)	MECOM (C1128Y +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2274888	NM_004991.4(MECOM):c.3359A>T (p.Glu1120Val)	MECOM (E1111V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414964	NM_004991.4(MECOM):c.3353A>G (p.Tyr1118Cys)	MECOM (Y1109C +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2284484	NM_004991.4(MECOM):c.3337A>C (p.Asn1113His)	MECOM (N1113H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 91962	NM_004991.4(MECOM):c.3314T>C (p.Val1105Ala)	MECOM (V1105A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792029	NM_004991.4(MECOM):c.3303A>G (p.Gly1101=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076712	NM_004991.4(MECOM):c.3284A>G (p.Asp1095Gly)	MECOM (D1086G +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771584	NM_004991.4(MECOM):c.3243T>C (p.Val1081=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1338141	NM_004991.4(MECOM):c.3236AAG[1] (p.Glu1080del)	MECOM (E1071del +8 more)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 2878464	NM_004991.4(MECOM):c.3240A>T (p.Glu1080Asp)	MECOM (E1071D +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852551	NM_004991.4(MECOM):c.3206C>G (p.Thr1069Ser)	MECOM (T872S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181487	NM_004991.4(MECOM):c.3203T>C (p.Val1068Ala)	MECOM (V880A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044213	NM_004991.4(MECOM):c.3178C>T (p.His1060Tyr)	MECOM (H872Y +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2061072	NM_004991.4(MECOM):c.3175A>G (p.Ser1059Gly)	MECOM (S1050G +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015100	NM_004991.4(MECOM):c.3171T>C (p.Asn1057=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871607	NM_004991.4(MECOM):c.3166A>G (p.Met1056Val)	MECOM (M1047V +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973291	NM_004991.4(MECOM):c.3165-15dup	MECOM	Duplication (intron variant)	not provided	GBenign
Select item 1974386	NM_004991.4(MECOM):c.3165-15del	MECOM	Deletion (intron variant)	not provided	GBenign
Select item 1970941	NM_004991.4(MECOM):c.3165-17T>G	MECOM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971826	NM_004991.4(MECOM):c.3164+11C>T	MECOM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2830233	NM_004991.4(MECOM):c.3147C>G (p.Pro1049=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013928	NM_004991.4(MECOM):c.3132T>C (p.His1044=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881738	NM_004991.4(MECOM):c.3131A>G (p.His1044Arg)	MECOM (H523R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756395	NM_004991.4(MECOM):c.3125G>A (p.Ser1042Asn)	MECOM (S919N +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997177	NM_004991.4(MECOM):c.3123C>T (p.Asn1041=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524514	NM_004991.4(MECOM):c.3117T>G (p.Ile1039Met)	MECOM (I518M +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887359	NM_004991.4(MECOM):c.3116T>C (p.Ile1039Thr)	MECOM (I1030T +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2867096	NM_004991.4(MECOM):c.3115A>C (p.Ile1039Leu)	MECOM (I1030L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874419	NM_004991.4(MECOM):c.3107G>A (p.Arg1036Gln)	MECOM (R1027Q +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901474	NM_004991.4(MECOM):c.3106C>G (p.Arg1036Gly)	MECOM (R839G +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620298	NM_004991.4(MECOM):c.3106C>T (p.Arg1036Ter)	MECOM (R1036* +8 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920396	NM_004991.4(MECOM):c.3103A>T (p.Ile1035Phe)	MECOM (I702F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974467	NM_004991.4(MECOM):c.3066G>A (p.Ala1022=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627761	NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)	MECOM (A1013V +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2020012	NM_004991.4(MECOM):c.3036G>A (p.Ser1012=)	MECOM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2084921	NM_004991.4(MECOM):c.3033G>A (p.Ser1011=)	MECOM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2792978	NM_004991.4(MECOM):c.3019+20A>G	MECOM	Single nucleotide variant (intron variant)	not provided	GLikely benign

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