2212[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
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 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 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 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
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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	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 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 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 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	C21orf58, COL6A1 +52 more	Copy number loss	See cases	GPathogenic
Select item 221407	GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1	COL6A1, COL6A2 +10 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 583695	NC_000021.9:g.(?_45981831)_(46132572_?)del	COL6A2, COL6A2-DT +3 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 583504	NC_000021.8:g.(?_47401745)_(47532511_?)dup	LOC121853033, LOC130066866 +3 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 649621	NC_000021.8:g.(?_47401755)_(47546465_?)dup	COL6A2, COL6A2-DT +3 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 1280497	NC_000021.9:g.46097955A>T	COL6A2, LOC121853033	Single nucleotide variant	not provided	GBenign
Select item 654836	NM_001849.3(COL6A2):c.-91_3071dup	LOC121853033, COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 896242	NM_001849.4(COL6A2):c.-76T>C	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 384609	NM_001849.4(COL6A2):c.-43G>T	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1231952	NM_001849.4(COL6A2):c.-28+99T>C	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289874	NM_001849.4(COL6A2):c.-27-265G>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276414	NM_001849.4(COL6A2):c.-27-243C>A	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679204	NM_001849.4(COL6A2):c.-27-149C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677612	NM_001849.4(COL6A2):c.-27-108G>C	COL6A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579226	GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1	COL6A2	Copy number loss	Bethlem myopathy 1A	GPathogenic
Select item 679820	NM_001849.4(COL6A2):c.-27-89G>A	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184572	NM_001849.4(COL6A2):c.-27-3C>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 3054140	NM_001849.4(COL6A2):c.-6G>T	COL6A2	Single nucleotide variant (5 prime UTR variant)	COL6A2-related disorder	GLikely benign
Select item 285809	NM_001849.4(COL6A2):c.-6G>A	COL6A2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2439448	NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)	COL6A2 (V8fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 583880	NC_000021.9:g.(?_46111477)_(46121123_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 846791	NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)	COL6A2 (M1I)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 3147683	NM_001849.4(COL6A2):c.5T>C (p.Leu2Pro)	COL6A2 (L2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369388	NM_001849.4(COL6A2):c.12C>T (p.Gly4=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 285631	NM_001849.4(COL6A2):c.14C>T (p.Thr5Ile)	COL6A2 (T5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032775	NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)	COL6A2 (C6S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1645790	NM_001849.4(COL6A2):c.21C>T (p.Ser7=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 195152	NM_001849.4(COL6A2):c.22G>A (p.Val8Met)	COL6A2 (V8M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2973558	NM_001849.4(COL6A2):c.27C>T (p.Leu9=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2883129	NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)	COL6A2 (L10R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1105390	NM_001849.4(COL6A2):c.33C>G (p.Leu11=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 896243	NM_001849.4(COL6A2):c.54C>G (p.Ile18Met)	COL6A2 (I18M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 965496	NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)	COL6A2 (A20T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1431362	NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg)	COL6A2 (Q21R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1445933	NM_001849.4(COL6A2):c.73G>A (p.Val25Ile)	COL6A2 (V25I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1626060	NM_001849.4(COL6A2):c.75C>T (p.Val25=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 653560	NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)	COL6A2 (S27L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 290722	NM_001849.4(COL6A2):c.81G>A (p.Ser27=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GBenign/Likely benign
Select item 2255072	NM_001849.4(COL6A2):c.82C>G (p.Pro28Ala)	COL6A2 (P28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063857	NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)	COL6A2 (P28S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1434664	NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)	COL6A2 (P28L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 662829	NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg)	COL6A2 (P28R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 283330	NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +5 more	GConflicting classifications of pathogenicity
Select item 1635528	NM_001849.4(COL6A2):c.93C>T (p.Thr31=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 450298	NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)	COL6A2 (E32*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 290526	NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)	COL6A2 (E32K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694468	NM_001849.4(COL6A2):c.101_104del (p.Asn34fs)	COL6A2 (N34fs)	Deletion (frameshift variant)	Bethlem myopathy 1A +2 more	GPathogenic
Select item 1912598	NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)	COL6A2 (N36del)	Microsatellite (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 1910613	NM_001849.4(COL6A2):c.102C>T (p.Asn34=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2664838	NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)	COL6A2 (N35K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1065448	NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)	COL6A2 (C37*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1324140	NM_001849.4(COL6A2):c.115+2_115+8del	COL6A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1052814	NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser)	COL6A2 (P38S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 476449	NM_001849.4(COL6A2):c.115+2T>C	COL6A2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 284479	NM_001849.4(COL6A2):c.115+6del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity

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