608461[MIM] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2471083	NM_032888.4(COL27A1):c.4G>A (p.Gly2Arg)	COL27A1 (G2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149285	NM_032888.4(COL27A1):c.7G>A (p.Ala3Thr)	COL27A1 (A3T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449728	NM_032888.4(COL27A1):c.11G>C (p.Gly4Ala)	COL27A1 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1531977	NM_032888.4(COL27A1):c.12A>G (p.Gly4=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007827	NM_032888.4(COL27A1):c.15G>A (p.Ser5=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042159	NM_032888.4(COL27A1):c.18G>A (p.Ala6=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136701	NM_032888.4(COL27A1):c.20G>T (p.Arg7Leu)	COL27A1 (R7L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1643029	NM_032888.4(COL27A1):c.21G>C (p.Arg7=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984489	NM_032888.4(COL27A1):c.24G>A (p.Gly8=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113192	NM_032888.4(COL27A1):c.24G>C (p.Gly8=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159996	NM_032888.4(COL27A1):c.27C>G (p.Ala9=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764126	NM_032888.4(COL27A1):c.36A>G (p.Thr12=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018033	NM_032888.4(COL27A1):c.39G>A (p.Ala13=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158691	NM_032888.4(COL27A1):c.42G>A (p.Ala14=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555776	NM_032888.4(COL27A1):c.42G>T (p.Ala14=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146332	NM_032888.4(COL27A1):c.45G>A (p.Ala15=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145826	NM_032888.4(COL27A1):c.47C>T (p.Ala16Val)	COL27A1 (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704609	NM_032888.4(COL27A1):c.51G>A (p.Ala17=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084612	NM_032888.4(COL27A1):c.51G>C (p.Ala17=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146544	NM_032888.4(COL27A1):c.54G>A (p.Ala18=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161100	NM_032888.4(COL27A1):c.57C>G (p.Arg19=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967932	NM_032888.4(COL27A1):c.62+1del	COL27A1	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1426698	NM_032888.4(COL27A1):c.60G>T (p.Gly20=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136051	NM_032888.4(COL27A1):c.60G>C (p.Gly20=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509641	NM_032888.4(COL27A1):c.62+1G>C	COL27A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1339013	NM_032888.4(COL27A1):c.62+1G>T	COL27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1031007	NM_032888.4(COL27A1):c.62+4A>G	COL27A1	Single nucleotide variant (intron variant)	Steel syndrome	GUncertain significance
Select item 1391768	NM_032888.4(COL27A1):c.62+5G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1087533	NM_032888.4(COL27A1):c.62+7A>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094559	NM_032888.4(COL27A1):c.62+8C>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620761	NM_032888.4(COL27A1):c.62+9G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 794093	NM_032888.4(COL27A1):c.62+9G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981313	NM_032888.4(COL27A1):c.62+12C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709271	NM_032888.4(COL27A1):c.62+17G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916916	NM_032888.4(COL27A1):c.62+20C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185156	NM_032888.4(COL27A1):c.63-214A>G	COL27A1	Single nucleotide variant (intron variant)	Steel syndrome	GBenign
Select item 2704524	NM_032888.4(COL27A1):c.63-18G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824489	NM_032888.4(COL27A1):c.63-16G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877880	NM_032888.4(COL27A1):c.63-11C>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1152005	NM_032888.4(COL27A1):c.63-9G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018919	NM_032888.4(COL27A1):c.63-3_77del	COL27A1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2034404	NM_032888.4(COL27A1):c.63-6C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098485	NM_032888.4(COL27A1):c.63-4C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734007	NM_032888.4(COL27A1):c.63-4C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972062	NC_000009.12:g.114162718del	COL27A1	Deletion	not provided	GPathogenic
Select item 1066202	NM_032888.4(COL27A1):c.63-1G>A	COL27A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 754410	NM_032888.4(COL27A1):c.66G>T (p.Gly22=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978043	NM_032888.4(COL27A1):c.90C>G (p.Val30=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129026	NM_032888.4(COL27A1):c.90C>T (p.Val30=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150746	NM_032888.4(COL27A1):c.93G>A (p.Ser31=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111305	NM_032888.4(COL27A1):c.93G>T (p.Ser31=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807556	NM_032888.4(COL27A1):c.93del (p.Phe32fs)	COL27A1 (F32fs)	Deletion (frameshift variant)	Steel syndrome	GPathogenic
Select item 2765687	NM_032888.4(COL27A1):c.99del (p.Cys34fs)	COL27A1 (C34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1106066	NM_032888.4(COL27A1):c.99C>T (p.Ala33=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114609	NM_032888.4(COL27A1):c.102T>C (p.Cys34=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115020	NM_032888.4(COL27A1):c.105C>T (p.His35=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980086	NM_032888.4(COL27A1):c.114C>T (p.Ser38=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148702	NM_032888.4(COL27A1):c.116C>T (p.Thr39Ile)	COL27A1 (T39I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 746770	NM_032888.4(COL27A1):c.117C>A (p.Thr39=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993415	NM_032888.4(COL27A1):c.133+9C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764822	NM_032888.4(COL27A1):c.133+9C>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622449	NM_032888.4(COL27A1):c.133+12T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621095	NM_032888.4(COL27A1):c.133+17T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185157	NM_032888.4(COL27A1):c.134-148G>A	COL27A1	Single nucleotide variant (intron variant)	Steel syndrome	GBenign
Select item 1566685	NM_032888.4(COL27A1):c.134-17T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894942	NM_032888.4(COL27A1):c.134-14T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672581	NM_032888.4(COL27A1):c.134-9C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822690	NM_032888.4(COL27A1):c.134-8C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191261	NM_032888.4(COL27A1):c.134-7C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742944	NM_032888.4(COL27A1):c.134-5C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763978	NM_032888.4(COL27A1):c.141C>T (p.Asp47=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133937	NM_032888.4(COL27A1):c.144C>T (p.Ile48=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575661	NM_032888.4(COL27A1):c.147C>T (p.Leu49=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763577	NM_032888.4(COL27A1):c.150G>A (p.Gln50=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147516	NM_032888.4(COL27A1):c.151C>T (p.Arg51Trp)	COL27A1 (R51W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718020	NM_032888.4(COL27A1):c.152G>A (p.Arg51Gln)	COL27A1 (R51Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2174321	NM_032888.4(COL27A1):c.153G>T (p.Arg51=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749232	NM_032888.4(COL27A1):c.159C>G (p.Gly53=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889150	NM_032888.4(COL27A1):c.162C>T (p.Leu54=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130304	NM_032888.4(COL27A1):c.165C>T (p.Ser55=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826390	NM_032888.4(COL27A1):c.168G>A (p.Trp56Ter)	COL27A1 (W56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1528691	NM_032888.4(COL27A1):c.170C>T (p.Thr57Met)	COL27A1 (T57M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1130634	NM_032888.4(COL27A1):c.171G>A (p.Thr57=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799099	NM_032888.4(COL27A1):c.174G>A (p.Lys58=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130804	NM_032888.4(COL27A1):c.177C>T (p.Ala59=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782528	NM_032888.4(COL27A1):c.178G>A (p.Gly60Arg)	COL27A1 (G60R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1122753	NM_032888.4(COL27A1):c.180G>A (p.Gly60=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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