10274[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 146737	GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3	EPHB1, LOC112903838 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 149150	GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3	LOC112903838, LOC123038190 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2702969	NM_005862.3(STAG1):c.3761G>C (p.Gly1254Ala)	STAG1 (G1254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370934	NM_005862.3(STAG1):c.3760G>T (p.Gly1254Ter)	STAG1 (G1254*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2025430	NM_005862.3(STAG1):c.3753+12A>G	STAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751100	NM_005862.3(STAG1):c.3753+8T>G	STAG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2067206	NM_005862.3(STAG1):c.3753+7G>A	STAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869200	NM_005862.3(STAG1):c.3750_3751inv (p.Asp1250_Ser1251delinsGluThr)	STAG1	Inversion (missense variant)	not provided	GUncertain significance
Select item 2712385	NM_005862.3(STAG1):c.3751T>A (p.Ser1251Thr)	STAG1 (S1251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195536	NM_005862.3(STAG1):c.3726C>T (p.Asp1242=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817914	NM_005862.3(STAG1):c.3697_3700del (p.Arg1233fs)	STAG1 (R1233fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2803225	NM_005862.3(STAG1):c.3692G>A (p.Arg1231Gln)	STAG1 (R1231Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709088	NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)	STAG1 (R1231*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2128873	NM_005862.3(STAG1):c.3673-21_3673-18dup	STAG1	Duplication (intron variant)	not provided	GLikely benign
Select item 1971187	NM_005862.3(STAG1):c.3672+16A>G	STAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695084	NM_005862.3(STAG1):c.3672+4_3672+11del	STAG1	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 2079437	NM_005862.3(STAG1):c.3670C>T (p.Leu1224=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787538	NM_005862.3(STAG1):c.3635T>C (p.Met1212Thr)	STAG1 (M1212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664813	NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)	STAG1 (A1194V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2871145	NM_005862.3(STAG1):c.3564T>C (p.Gly1188=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371424	NM_005862.3(STAG1):c.3563G>C (p.Gly1188Ala)	STAG1 (G1188A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260776	NM_005862.3(STAG1):c.3563G>A (p.Gly1188Asp)	STAG1 (G1188D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987233	NM_005862.3(STAG1):c.3559C>T (p.Arg1187Trp)	STAG1 (R1187W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1971461	NM_005862.3(STAG1):c.3558-14C>T	STAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176933	NM_005862.3(STAG1):c.3546G>A (p.Val1182=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340601	NM_005862.3(STAG1):c.3544G>A (p.Val1182Met)	STAG1 (V1182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2727290	NM_005862.3(STAG1):c.3536G>A (p.Arg1179Lys)	STAG1 (R1179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2654168	NM_005862.3(STAG1):c.3526A>G (p.Met1176Val)	STAG1 (M1176V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505237	NM_005862.3(STAG1):c.3517A>C (p.Met1173Leu)	STAG1 (M1173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571975	NM_005862.3(STAG1):c.3506A>G (p.Asp1169Gly)	STAG1 (D1169G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028166	NM_005862.3(STAG1):c.3500G>A (p.Arg1167Gln)	STAG1 (R1167Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504375	NM_005862.3(STAG1):c.3499C>G (p.Arg1167Gly)	STAG1 (R1167G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3390500	NM_005862.3(STAG1):c.3491A>G (p.Asp1164Gly)	STAG1 (D1164G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971836	NM_005862.3(STAG1):c.3489A>G (p.Glu1163=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711580	NM_005862.3(STAG1):c.3488A>G (p.Glu1163Gly)	STAG1 (E1163G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2877343	NM_005862.3(STAG1):c.3483G>A (p.Lys1161=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788285	NM_005862.3(STAG1):c.3480G>A (p.Pro1160=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115363	NM_005862.3(STAG1):c.3479C>T (p.Pro1160Leu)	STAG1 (P1160L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372037	NM_005862.3(STAG1):c.3466T>C (p.Trp1156Arg)	STAG1 (W1156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654169	NM_005862.3(STAG1):c.3462C>T (p.Ile1154=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974493	NM_005862.3(STAG1):c.3446+19T>C	STAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862823	NM_005862.3(STAG1):c.3446+14A>T	STAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737970	NM_005862.3(STAG1):c.3446+1G>A	STAG1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2789220	NM_005862.3(STAG1):c.3444C>A (p.His1148Gln)	STAG1 (H1148Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3069050	NM_005862.3(STAG1):c.3435C>T (p.Asp1145=)	STAG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1047329	NM_005862.3(STAG1):c.3422G>T (p.Gly1141Val)	STAG1 (G1141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096290	NM_005862.3(STAG1):c.3412T>A (p.Ser1138Thr)	STAG1 (S1138T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2436500	NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro)	STAG1 (Q1134P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1650467	NM_005862.3(STAG1):c.3396G>C (p.Gln1132His)	STAG1 (Q1132H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3170869	NM_005862.3(STAG1):c.3385A>G (p.Met1129Val)	STAG1 (M1129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654170	NM_005862.3(STAG1):c.3385A>C (p.Met1129Leu)	STAG1 (M1129L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1995351	NM_005862.3(STAG1):c.3384C>T (p.Pro1128=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170868	NM_005862.3(STAG1):c.3380G>A (p.Arg1127Gln)	STAG1 (R1127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2868546	NM_005862.3(STAG1):c.3368G>A (p.Arg1123Gln)	STAG1 (R1123Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2654171	NM_005862.3(STAG1):c.3367C>T (p.Arg1123Trp)	STAG1 (R1123W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021221	NM_005862.3(STAG1):c.3364C>T (p.Leu1122=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3383719	NM_005862.3(STAG1):c.3352A>T (p.Thr1118Ser)	STAG1 (T1118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031594	NM_005862.3(STAG1):c.3351C>T (p.Leu1117=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090257	NM_005862.3(STAG1):c.3341CAC[1] (p.Pro1115del)	STAG1 (P1115del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2104945	NM_005862.3(STAG1):c.3342A>G (p.Ala1114=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519527	NM_005862.3(STAG1):c.3341C>T (p.Ala1114Val)	STAG1 (A1114V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2080618	NM_005862.3(STAG1):c.3339A>G (p.Pro1113=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2230261	NM_005862.3(STAG1):c.3334C>G (p.Leu1112Val)	STAG1 (L1112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330606	NM_005862.3(STAG1):c.3332C>T (p.Pro1111Leu)	STAG1 (P1111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2023799	NM_005862.3(STAG1):c.3330C>T (p.Gly1110=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663188	NM_005862.3(STAG1):c.3325C>T (p.Pro1109Ser)	STAG1 (P1109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363501	NM_005862.3(STAG1):c.3317T>A (p.Ile1106Asn)	STAG1 (I1106N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870766	NM_005862.3(STAG1):c.3313A>G (p.Met1105Val)	STAG1 (M1105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036309	NM_005862.3(STAG1):c.3312C>A (p.Thr1104=)	STAG1	Single nucleotide variant (synonymous variant)	STAG1-related disorder	GLikely benign
Select item 2782194	NM_005862.3(STAG1):c.3304A>T (p.Thr1102Ser)	STAG1 (T1102S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2574337	NM_005862.3(STAG1):c.3292T>C (p.Trp1098Arg)	STAG1 (W1098R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298942	NM_005862.3(STAG1):c.3289A>C (p.Thr1097Pro)	STAG1 (T1097P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384905	NM_005862.3(STAG1):c.3286A>G (p.Asn1096Asp)	STAG1 (N1096D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2783285	NM_005862.3(STAG1):c.3276G>C (p.Glu1092Asp)	STAG1 (E1092D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654172	NM_005862.3(STAG1):c.3276G>A (p.Glu1092=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3390209	NM_005862.3(STAG1):c.3272A>G (p.Asp1091Gly)	STAG1 (D1091G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599657	NM_005862.3(STAG1):c.3271+18C>G	STAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031406	NM_005862.3(STAG1):c.3271+5G>A	STAG1	Single nucleotide variant (intron variant)	STAG1-related disorder	GUncertain significance
Select item 559649	NM_005862.3(STAG1):c.3261del (p.Lys1087fs)	STAG1 (K1087fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2690892	NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)	STAG1 (R1081*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2721641	NM_005862.3(STAG1):c.3216C>T (p.Thr1072=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866995	NM_005862.3(STAG1):c.3215C>A (p.Thr1072Asn)	STAG1 (T1072N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875946	NM_005862.3(STAG1):c.3192C>T (p.Asn1064=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700281	NM_005862.3(STAG1):c.3184T>C (p.Ser1062Pro)	STAG1 (S1062P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801431	NM_005862.3(STAG1):c.3159C>T (p.Val1053=)	STAG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712563	NM_005862.3(STAG1):c.3109AGG[3] (p.Arg1038_Glu1039insArg)	STAG1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 996953	NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr)	STAG1 (M1035T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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