ClinVar for Gene (Select 6526) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3165243	NM_006933.7(SLC5A3):c.223A>G (p.Ser75Gly)	MRPS6, SLC5A3 (S75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165242	NM_006933.7(SLC5A3):c.2055A>C (p.Leu685Phe)	MRPS6, SLC5A3 (L685F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165241	NM_006933.7(SLC5A3):c.1804G>T (p.Asp602Tyr)	MRPS6, SLC5A3 (D602Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165240	NM_006933.7(SLC5A3):c.1636T>C (p.Phe546Leu)	MRPS6, SLC5A3 (F546L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165239	NM_006933.7(SLC5A3):c.1187A>C (p.Lys396Thr)	MRPS6, SLC5A3 (K396T)	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 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 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 2556828	NM_006933.7(SLC5A3):c.1195C>T (p.Arg399Cys)	MRPS6, SLC5A3 (R399C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517974	NM_006933.7(SLC5A3):c.1928A>C (p.Glu643Ala)	MRPS6, SLC5A3 (E643A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367728	NM_006933.7(SLC5A3):c.2005C>A (p.Leu669Ile)	MRPS6, SLC5A3 (L669I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342135	NM_006933.7(SLC5A3):c.1249T>G (p.Phe417Val)	MRPS6, SLC5A3 (F417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340747	NM_006933.7(SLC5A3):c.274C>T (p.Leu92Phe)	MRPS6, SLC5A3 (L92F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309422	NM_006933.7(SLC5A3):c.554A>G (p.Asp185Gly)	MRPS6, SLC5A3 (D185G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273877	NM_006933.7(SLC5A3):c.106G>A (p.Val36Met)	MRPS6, SLC5A3 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224716	NM_006933.7(SLC5A3):c.1792C>T (p.Leu598Phe)	MRPS6, SLC5A3 (L598F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211552	NM_006933.7(SLC5A3):c.1282A>G (p.Ile428Val)	MRPS6, SLC5A3 (I428V)	Single nucleotide variant (missense variant +1 more)	not specified	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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 1526716	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)	CLIC6, KCNE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
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 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EPCIP, HUNK +48 more	Duplication	DYRK1A-related intellectual disability syndrome +3 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 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	IFNGR2, IL10RB +33 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	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 980231	GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1	ATP5PO, CRYZL1 +14 more	Copy number loss	not provided	GPathogenic
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 812914	NC_000021.8:g.35304355_36865958del	KCNE1, KCNE2 +6 more	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812913	NC_000021.8:g.35304341_36865875del	CLIC6, KCNE1 +6 more	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 756704	NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=)	MRPS6, SLC5A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 685844	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1	CLIC6, KCNE1 +6 more	Copy number loss	not provided	GPathogenic
Select item 585231	GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1	ATP5PO, CRYZL1 +16 more	Copy number loss	not provided	Gnot provided
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 564670	GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3	RCAN1, CLIC6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +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 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 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	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 147666	GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3	ATP5PO, CLIC6 +8 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	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 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +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	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +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 59248	GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3	CLIC6, KCNE1 +6 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +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	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79