121340[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 309757	NM_001173467.3(SP7):c.*408CTT[1]	SP7	Microsatellite (3 prime UTR variant)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 309759	NM_001173467.3(SP7):c.*59A>T	SP7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3336060	NM_001173467.3(SP7):c.*7dup	SP7	Duplication (3 prime UTR variant)	not specified	GUncertain significance
Select item 284957	NM_001173467.3(SP7):c.*4G>A	SP7	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 3339464	NM_001173467.3(SP7):c.*3C>T	SP7	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 282803	NM_001173467.3(SP7):c.1272G>A (p.Glu424=)	SP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2471458	NM_001173467.3(SP7):c.1253C>T (p.Ala418Val)	SP7 (A418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2758041	NM_001173467.3(SP7):c.1221A>G (p.Arg407=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436152	NM_001173467.3(SP7):c.1220G>A (p.Arg407Gln)	SP7 (R389Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463854	NM_001173467.3(SP7):c.1214C>T (p.Thr405Met)	SP7 (T405M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922866	NM_001173467.3(SP7):c.1191G>A (p.Thr397=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587263	NM_001173467.3(SP7):c.1184G>A (p.Arg395His)	SP7 (R377H +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1983497	NM_001173467.3(SP7):c.1183C>T (p.Arg395Cys)	SP7 (R377C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2605498	NM_001173467.3(SP7):c.1177G>A (p.Glu393Lys)	SP7 (E375K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1385531	NM_001173467.3(SP7):c.1170G>T (p.Glu390Asp)	SP7 (E372D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2075227	NM_001173467.3(SP7):c.1166A>G (p.Lys389Arg)	SP7 (K389R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599730	NM_001173467.3(SP7):c.1148C>T (p.Pro383Leu)	SP7 (P365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2821249	NM_001173467.3(SP7):c.1146T>C (p.Gly382=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358523	NM_001173467.3(SP7):c.1142C>T (p.Pro381Leu)	SP7 (P381L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806627	NM_001173467.3(SP7):c.1139G>C (p.Gly380Ala)	SP7 (G362A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810161	NM_001173467.3(SP7):c.1129G>A (p.Gly377Arg)	SP7 (G359R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285779	NM_001173467.3(SP7):c.1128T>C (p.His376=)	SP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1914678	NM_001173467.3(SP7):c.1120C>T (p.Arg374Cys)	SP7 (R356C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362384	NM_001173467.3(SP7):c.1104C>A (p.His368Gln)	SP7 (H350Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967908	NM_001173467.3(SP7):c.1101C>T (p.Asp367=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285778	NM_001173467.3(SP7):c.1098C>T (p.Ser366=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 12 +2 more	GBenign
Select item 829874	NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter)	SP7 (R347* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2022992	NM_001173467.3(SP7):c.1091C>T (p.Thr364Ile)	SP7 (T364I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369315	NM_001173467.3(SP7):c.1085G>A (p.Arg362His)	SP7 (R344H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1918913	NM_001173467.3(SP7):c.1084C>T (p.Arg362Cys)	SP7 (R344C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950356	NM_001173467.3(SP7):c.1056G>A (p.Lys352=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31854	NM_001173467.3(SP7):c.1052del (p.Glu351fs)	SP7 (E333fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 1442563	NM_001173467.3(SP7):c.1048C>T (p.Arg350Trp)	SP7 (R332W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167947	NM_001173467.3(SP7):c.1037G>A (p.Arg346His)	SP7 (R346H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1899963	NM_001173467.3(SP7):c.1032T>C (p.His344=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915895	NM_001173467.3(SP7):c.1029T>A (p.Arg343=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376877	NM_001173467.3(SP7):c.1028G>A (p.Arg343His)	SP7 (R325H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498516	NM_001173467.3(SP7):c.1027C>T (p.Arg343Cys)	SP7 (R343C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513080	NM_001173467.3(SP7):c.1019A>C (p.Glu340Ala)	SP7 (E322A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427872	NM_001173467.3(SP7):c.1014G>A (p.Ser338=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059569	NM_001173467.3(SP7):c.1010G>A (p.Arg337His)	SP7 (R337H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921325	NM_001173467.3(SP7):c.1009C>T (p.Arg337Cys)	SP7 (R337C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502090	NM_001173467.3(SP7):c.1007C>G (p.Thr336Ser)	SP7 (T336S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481163	NM_001173467.3(SP7):c.999G>C (p.Lys333Asn)	SP7 (K315N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216890	NM_001173467.3(SP7):c.999G>A (p.Lys333=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1268320	NM_001173467.3(SP7):c.993C>T (p.Cys331=)	SP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2010217	NM_001173467.3(SP7):c.987C>T (p.Leu329=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2436268	NM_001173467.3(SP7):c.973G>A (p.Val325Ile)	SP7 (V307I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GUncertain significance
Select item 1508841	NM_001173467.3(SP7):c.961G>A (p.Glu321Lys)	SP7 (E321K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974247	NM_001173467.3(SP7):c.960C>T (p.Gly320=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273783	NM_001173467.3(SP7):c.947G>A (p.Arg316His)	SP7 (R298H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560212	NM_001173467.3(SP7):c.946C>T (p.Arg316Cys)	SP7 (R316C +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 1935684	NM_001173467.3(SP7):c.944T>G (p.Leu315Trp)	SP7 (L297W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594939	NM_001173467.3(SP7):c.927G>A (p.Ser309=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1496016	NM_001173467.3(SP7):c.926C>G (p.Ser309Trp)	SP7 (S291W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337619	NM_001173467.3(SP7):c.907A>G (p.Lys303Glu)	SP7 (K285E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989171	NM_001173467.3(SP7):c.903C>T (p.Cys301=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383612	NM_001173467.3(SP7):c.866G>A (p.Arg289Gln)	SP7 (R271Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744269	NM_001173467.3(SP7):c.865C>T (p.Arg289Trp)	SP7 (R271W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 196318	NM_001173467.3(SP7):c.864G>A (p.Leu288=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 1702065	NM_001173467.3(SP7):c.855G>A (p.Ala285=)	SP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1468870	NM_001173467.3(SP7):c.848C>T (p.Ala283Val)	SP7 (A265V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495322	NM_001173467.3(SP7):c.839G>T (p.Arg280Leu)	SP7 (R280L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1478502	NM_001173467.3(SP7):c.838C>T (p.Arg280Trp)	SP7 (R280W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906460	NM_001173467.3(SP7):c.811G>A (p.Asp271Asn)	SP7 (D253N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302961	NM_001173467.3(SP7):c.799C>T (p.Arg267Cys)	SP7 (R267C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1480571	NM_001173467.3(SP7):c.793G>A (p.Ala265Thr)	SP7 (A265T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754156	NM_001173467.3(SP7):c.786C>A (p.Gly262=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223733	NM_001173467.3(SP7):c.782G>T (p.Gly261Val)	SP7 (G243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1382057	NM_001173467.3(SP7):c.775G>C (p.Gly259Arg)	SP7 (G259R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976106	NM_001173467.3(SP7):c.773G>A (p.Gly258Asp)	SP7 (G240D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954836	NM_001173467.3(SP7):c.762T>C (p.Thr254=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3353048	NM_001173467.3(SP7):c.754G>T (p.Ala252Ser)	SP7 (A234S +1 more)	Single nucleotide variant (missense variant)	SP7-related disorder	GUncertain significance
Select item 3167953	NM_001173467.3(SP7):c.752G>T (p.Gly251Val)	SP7 (G233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258772	NM_001173467.3(SP7):c.751G>A (p.Gly251Ser)	SP7 (G233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2093271	NM_001173467.3(SP7):c.748C>T (p.Arg250Trp)	SP7 (R232W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666959	NM_001173467.3(SP7):c.744C>A (p.Pro248=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3167952	NM_001173467.3(SP7):c.739A>C (p.Lys247Gln)	SP7 (K247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1522376	NM_001173467.3(SP7):c.712G>T (p.Gly238Trp)	SP7 (G238W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1531418	NM_001173467.3(SP7):c.690A>G (p.Lys230=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702063	NM_001173467.3(SP7):c.675C>T (p.Pro225=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 3037855	NM_001173467.3(SP7):c.666T>C (p.His222=)	SP7	Single nucleotide variant (synonymous variant)	SP7-related disorder	GLikely benign
Select item 2780783	NM_001173467.3(SP7):c.642C>T (p.His214=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542315	NM_001173467.3(SP7):c.632C>T (p.Pro211Leu)	SP7 (P211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2172478	NM_001173467.3(SP7):c.625C>T (p.Pro209Ser)	SP7 (P209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746783	NM_001173467.3(SP7):c.585G>T (p.Leu195=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3167951	NM_001173467.3(SP7):c.583C>G (p.Leu195Val)	SP7 (L177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167950	NM_001173467.3(SP7):c.574A>G (p.Asn192Asp)	SP7 (N192D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1532754	NM_001173467.3(SP7):c.565C>T (p.Pro189Ser)	SP7 (P171S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1548555	NM_001173467.3(SP7):c.564G>A (p.Gln188=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606721	NM_001173467.3(SP7):c.552A>G (p.Thr184=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746382	NM_001173467.3(SP7):c.540G>A (p.Gly180=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759741	NM_001173467.3(SP7):c.531G>C (p.Gly177=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019056	NM_001173467.3(SP7):c.522G>A (p.Gln174=)	SP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702062	NM_001173467.3(SP7):c.500G>A (p.Trp167Ter)	SP7 (W149* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GUncertain significance
Select item 2436269	NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)	SP7 (G134A +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GUncertain significance

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