ClinVar for Gene (Select 10311) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188885	NM_006052.2(VPS26C):c.86C>T (p.Ser29Leu)	VPS26C (S29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188884	NM_006052.2(VPS26C):c.829G>A (p.Val277Met)	VPS26C (V152M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188883	NM_006052.2(VPS26C):c.74T>C (p.Val25Ala)	VPS26C (V25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188882	NM_006052.2(VPS26C):c.703A>G (p.Ile235Val)	VPS26C (I110V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188881	NM_006052.2(VPS26C):c.659G>A (p.Gly220Glu)	VPS26C (G172E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188879	NM_006052.2(VPS26C):c.644G>A (p.Arg215His)	VPS26C (R188H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188878	NM_006052.2(VPS26C):c.569C>T (p.Thr190Met)	VPS26C (T163M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188877	NM_006052.2(VPS26C):c.536G>A (p.Arg179Gln)	VPS26C (R131Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188876	NM_006052.2(VPS26C):c.473C>T (p.Thr158Met)	VPS26C (T33M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188875	NM_006052.2(VPS26C):c.460C>G (p.Pro154Ala)	VPS26C (P127A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188874	NM_006052.2(VPS26C):c.376C>T (p.Arg126Trp)	VPS26C (R126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188873	NM_006052.2(VPS26C):c.214A>G (p.Ile72Val)	VPS26C (I24V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188872	NM_006052.2(VPS26C):c.212T>C (p.Ile71Thr)	VPS26C (I23T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188870	NM_006052.2(VPS26C):c.210G>T (p.Gln70His)	VPS26C (Q70H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188869	NM_006052.2(VPS26C):c.11C>A (p.Ala4Asp)	VPS26C (A4D)	Single nucleotide variant (missense variant)	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	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3034062	NM_006052.2(VPS26C):c.82A>G (p.Ile28Val)	VPS26C (I28V)	Single nucleotide variant (missense variant +1 more)	VPS26C-related condition	GLikely benign
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	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2617674	NM_006052.2(VPS26C):c.680G>A (p.Arg227His)	VPS26C (R227H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475388	NM_006052.2(VPS26C):c.5G>A (p.Gly2Glu)	VPS26C (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466239	NM_006052.2(VPS26C):c.207C>G (p.Ile69Met)	VPS26C (I21M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460700	NM_006052.2(VPS26C):c.625G>A (p.Val209Met)	VPS26C (V84M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808856	GRCh37/hg19 21q22.13(chr21:38131869-38787404)x3	DYRK1A, HLCS +4 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CHAF1B, CBR3 +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	CLDN14, CLIC6 +48 more	Duplication	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
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	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1176761	NM_006052.2(VPS26C):c.808G>A (p.Val270Met)	VPS26C (V145M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1061008	NC_000021.8:g.(?_37833274)_(39212984_?)dup	CLDN14, TTC3 +7 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
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 974902	NM_006052.2(VPS26C):c.178G>T (p.Glu60Ter)	VPS26C	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	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 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 443777	GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	B3GALT5, BRWD1 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 395335	GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	B3GALT5, BRWD1 +21 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	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 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 204003	GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	ERG, ETS2 +23 more	Copy number loss	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 162157	NC_000021.8:g.(?_38007970)_(39747620_?)del	DSCR4, DSCR8 +10 more	Deletion	Absent or delayed speech development +5 more	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149278	GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1	DSCR9, LOC111556145 +19 more	Copy number loss	See cases	GLikely benign
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +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	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +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 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	LOC130066625, LOC130066626 +177 more	Copy number loss	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CLDN14-AS1, DOP1B +110 more	Copy number loss	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	LOC108281150, LOC110121385 +224 more	Copy number loss	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91