2211[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	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 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 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 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 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
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +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	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +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	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	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 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 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
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 673579	NM_001848.2(COL6A1):c.-368C>T	COL6A1	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 1214449	NC_000021.9:g.45981584G>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1203873	NC_000021.9:g.45981589G>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1219655	NC_000021.9:g.45981594T>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1216096	NC_000021.9:g.45981599T>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1342739	NC_000021.9:g.45981609C>A	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1188025	NC_000021.9:g.45981727G>A	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 369363	NM_001848.2(COL6A1):c.-103C>A	COL6A1	Single nucleotide variant	Collagen 6-related myopathy	GLikely benign
Select item 340305	NM_001848.3(COL6A1):c.-76G>A	COL6A1	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 340306	NM_001848.3(COL6A1):c.-65C>G	COL6A1	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 895551	NM_001848.3(COL6A1):c.-40C>T	COL6A1	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 583695	NC_000021.9:g.(?_45981831)_(46132572_?)del	COL6A1, COL6A2 +3 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 583504	NC_000021.8:g.(?_47401745)_(47532511_?)dup	COL6A2-DT, LOC121853033 +3 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3251454	NM_001848.3(COL6A1):c.-19G>A	COL6A1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 649621	NC_000021.8:g.(?_47401755)_(47546465_?)dup	COL6A1, COL6A2 +3 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 258282	NM_001848.3(COL6A1):c.-8C>A	COL6A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 93792	NM_001848.3(COL6A1):c.-5C>G	COL6A1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 499198	NM_001848.3(COL6A1):c.-1C>T	COL6A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1522832	NM_001848.3(COL6A1):c.1A>T (p.Met1Leu)	COL6A1 (M1L)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 577490	NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys)	COL6A1 (R2K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 763549	NM_001848.3(COL6A1):c.9G>A (p.Ala3=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 285351	NM_001848.3(COL6A1):c.9G>T (p.Ala3=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1394771	NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr)	COL6A1 (A4T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1359474	NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys)	COL6A1 (R5C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 476415	NM_001848.3(COL6A1):c.14G>A (p.Arg5His)	COL6A1 (R5H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1451703	NM_001848.3(COL6A1):c.15T>A (p.Arg5=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2014767	NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)	COL6A1 (A6G)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2088603	NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)	COL6A1 (L7M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2920525	NM_001848.3(COL6A1):c.27C>G (p.Pro9=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 1576619	NM_001848.3(COL6A1):c.36G>C (p.Leu12=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1396686	NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr)	COL6A1 (A14T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1800477	NM_001848.3(COL6A1):c.43T>C (p.Cys15Arg)	COL6A1 (C15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130400	NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)	COL6A1 (C15F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2784785	NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)	COL6A1 (W16R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1457047	NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)	COL6A1 (T17fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GPathogenic
Select item 803639	NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)	COL6A1 (E24fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GPathogenic
Select item 3002882	NM_001848.3(COL6A1):c.57G>T (p.Ala19=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1161944	NM_001848.3(COL6A1):c.57G>A (p.Ala19=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 649269	NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)	COL6A1 (Q20*)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 2887538	NM_001848.3(COL6A1):c.61G>C (p.Asp21His)	COL6A1 (D21H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1021462	NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys)	COL6A1 (E22K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 946450	NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)	COL6A1 (P23L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 476438	NM_001848.3(COL6A1):c.69G>A (p.Pro23=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 288943	NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)	COL6A1 (T25N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440364	NM_001848.3(COL6A1):c.77C>T (p.Pro26Leu)	COL6A1 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032774	NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)	COL6A1 (R27W)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1939892	NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)	COL6A1 (A28V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 568846	NM_001848.3(COL6A1):c.85G>A (p.Val29Met)	COL6A1 (V29M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440341	NM_001848.3(COL6A1):c.93C>A (p.Phe31Leu)	COL6A1 (F31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665016	NM_001848.3(COL6A1):c.93C>T (p.Phe31=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1055827	NM_001848.3(COL6A1):c.96G>A (p.Gln32=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 585549	NM_001848.3(COL6A1):c.97+6T>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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