ClinVar for Gene (Select 25825) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259821	NM_012105.5(BACE2):c.74C>T (p.Ala25Val)	BACE2 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259810	NM_012105.5(BACE2):c.1123A>G (p.Ile375Val)	BACE2 (I375V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259799	NM_012105.5(BACE2):c.128T>C (p.Val43Ala)	BACE2 (V43A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259789	NM_012105.5(BACE2):c.223G>A (p.Ala75Thr)	BACE2 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3132780	NM_012105.5(BACE2):c.95C>A (p.Pro32His)	BACE2 (P32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132779	NM_012105.5(BACE2):c.695T>C (p.Met232Thr)	BACE2 (M232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132778	NM_012105.5(BACE2):c.571A>G (p.Ile191Val)	BACE2 (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132777	NM_012105.5(BACE2):c.1520A>G (p.Asn507Ser)	BACE2, LOC126653380 (N507S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132776	NM_012105.5(BACE2):c.1516G>A (p.Val506Ile)	BACE2, LOC126653380 (V456I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132775	NM_012105.5(BACE2):c.1483C>T (p.Arg495Trp)	BACE2, LOC126653380 (R445W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132774	NM_012105.5(BACE2):c.1462G>T (p.Val488Phe)	BACE2, LOC126653380 (V438F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132773	NM_012105.5(BACE2):c.1430G>C (p.Ser477Thr)	BACE2, LOC126653380 (S427T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132771	NM_012105.5(BACE2):c.1289C>G (p.Ala430Gly)	BACE2 (A430G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3060688	NM_012105.5(BACE2):c.1092C>T (p.Asp364=)	BACE2	Single nucleotide variant (synonymous variant +1 more)	BACE2-related disorder	GBenign
Select item 3059580	NM_012105.5(BACE2):c.748-10C>T	BACE2	Single nucleotide variant (intron variant)	BACE2-related disorder	GBenign
Select item 3049206	NM_012105.5(BACE2):c.312+11038G>A	BACE2, PLAC4 (R6C)	Single nucleotide variant (missense variant +2 more)	PLAC4-related disorder	GLikely benign
Select item 3048890	NM_012105.5(BACE2):c.111G>A (p.Ala37=)	BACE2	Single nucleotide variant (synonymous variant)	BACE2-related disorder	GBenign
Select item 3038903	NM_012105.5(BACE2):c.1378G>A (p.Ala460Thr)	BACE2, LOC126653380 (A410T +1 more)	Single nucleotide variant (missense variant +1 more)	BACE2-related disorder	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2509885	NM_012105.5(BACE2):c.362C>T (p.Thr121Ile)	BACE2 (T121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496303	NM_012105.5(BACE2):c.599C>G (p.Ala200Gly)	BACE2 (A200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481112	NM_012105.5(BACE2):c.148G>A (p.Gly50Arg)	BACE2 (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476693	NM_012105.5(BACE2):c.86T>C (p.Phe29Ser)	BACE2 (F29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462816	NM_012105.5(BACE2):c.139C>T (p.Pro47Ser)	BACE2 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402400	NM_012105.5(BACE2):c.1397C>G (p.Pro466Arg)	BACE2, LOC126653380 (P466R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383758	NM_012105.5(BACE2):c.1492C>T (p.Arg498Cys)	BACE2, LOC126653380 (R498C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324113	NM_012105.5(BACE2):c.285G>C (p.Glu95Asp)	BACE2 (E95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312728	NM_012105.5(BACE2):c.1348A>G (p.Thr450Ala)	BACE2, LOC126653380 (T450A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311194	NM_012105.5(BACE2):c.889G>A (p.Ala297Thr)	BACE2 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306315	NM_012105.5(BACE2):c.976G>A (p.Ala326Thr)	BACE2 (A326T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300439	NM_012105.5(BACE2):c.191T>A (p.Leu64Gln)	BACE2 (L64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291668	NM_012105.5(BACE2):c.1252A>G (p.Ile418Val)	BACE2 (I368V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283129	NM_012105.5(BACE2):c.983T>C (p.Leu328Pro)	BACE2 (L328P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268559	NM_012105.5(BACE2):c.1106G>A (p.Arg369Lys)	BACE2 (R369K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247607	NM_012105.5(BACE2):c.1265C>T (p.Ala422Val)	BACE2 (A422V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240226	NM_012105.5(BACE2):c.433G>C (p.Val145Leu)	BACE2 (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237487	NM_012105.5(BACE2):c.731C>T (p.Thr244Ile)	BACE2 (T244I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222305	NM_012105.5(BACE2):c.974G>A (p.Arg325His)	BACE2 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 798000	NM_012105.5(BACE2):c.489C>T (p.Val163=)	BACE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786690	NM_012105.5(BACE2):c.1304-8C>T	BACE2, LOC126653380	Single nucleotide variant (intron variant)	BACE2-related disorder +1 more	GBenign
Select item 786689	NM_012105.5(BACE2):c.1135-10C>T	BACE2	Single nucleotide variant (intron variant)	BACE2-related disorder +1 more	GBenign
Select item 755920	NM_012105.5(BACE2):c.264T>A (p.Ser88=)	BACE2	Single nucleotide variant (synonymous variant)	BACE2-related disorder +1 more	GLikely benign
Select item 726927	NM_012105.5(BACE2):c.1432G>A (p.Val478Ile)	BACE2, LOC126653380 (V478I +1 more)	Single nucleotide variant (missense variant +1 more)	BACE2-related disorder +1 more	GLikely benign
Select item 724936	NM_012105.5(BACE2):c.166C>T (p.His56Tyr)	BACE2 (H56Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711742	NM_012105.5(BACE2):c.1233G>A (p.Val411=)	BACE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic

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