1337[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	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 676664	NM_004373.3(COX6A1):c.-155T>C	COX6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1226083	NC_000012.12:g.120437987C>T	COX6A1	Single nucleotide variant	not provided	GBenign
Select item 676665	NM_004373.3(COX6A1):c.-48G>A	COX6A1	Single nucleotide variant	not provided	GLikely benign
Select item 382038	NM_004373.3(COX6A1):c.-45A>G	COX6A1	Single nucleotide variant	not specified	GLikely benign
Select item 1511804	NM_004373.4(COX6A1):c.3G>T (p.Met1Ile)	COX6A1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371971	NM_004373.4(COX6A1):c.3G>A (p.Met1Ile)	COX6A1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2143699	NM_004373.4(COX6A1):c.4G>T (p.Ala2Ser)	COX6A1 (A2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892205	NM_004373.4(COX6A1):c.5C>T (p.Ala2Val)	COX6A1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752197	NM_004373.4(COX6A1):c.6G>A (p.Ala2=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478127	NM_004373.4(COX6A1):c.8T>C (p.Val3Ala)	COX6A1 (V3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015111	NM_004373.4(COX6A1):c.9A>G (p.Val3=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363414	NM_004373.4(COX6A1):c.10G>T (p.Val4Phe)	COX6A1 (V4F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1933913	NM_004373.4(COX6A1):c.11T>G (p.Val4Gly)	COX6A1 (V4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507366	NM_004373.4(COX6A1):c.14G>T (p.Gly5Val)	COX6A1 (G5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192362	NM_004373.4(COX6A1):c.19T>A (p.Ser7Thr)	COX6A1 (S7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444102	NM_004373.4(COX6A1):c.20C>G (p.Ser7Cys)	COX6A1 (S7C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440660	NM_004373.4(COX6A1):c.20C>T (p.Ser7Phe)	COX6A1 (S7F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2794680	NM_004373.4(COX6A1):c.27T>G (p.Val9=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508998	NM_004373.4(COX6A1):c.29C>G (p.Ser10Cys)	COX6A1 (S10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424359	NM_004373.4(COX6A1):c.32G>C (p.Arg11Pro)	COX6A1 (R11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386514	NM_004373.4(COX6A1):c.36G>C (p.Leu12=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332755	NM_004373.4(COX6A1):c.40G>A (p.Gly14Ser)	COX6A1 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1993551	NM_004373.4(COX6A1):c.44G>A (p.Arg15Gln)	COX6A1 (R15Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464657	NM_004373.4(COX6A1):c.47C>T (p.Ser16Phe)	COX6A1 (S16F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945779	NM_004373.4(COX6A1):c.48C>T (p.Ser16=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418345	NM_004373.4(COX6A1):c.50G>A (p.Arg17His)	COX6A1 (R17H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909573	NM_004373.4(COX6A1):c.64C>T (p.Arg22Trp)	COX6A1 (R22W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589213	NM_004373.4(COX6A1):c.70A>G (p.Met24Val)	COX6A1 (M24V)	Single nucleotide variant (missense variant)	COX6A1-related condition +1 more	GLikely benign
Select item 2094766	NM_004373.4(COX6A1):c.81C>A (p.Gly27=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1650153	NM_004373.4(COX6A1):c.81C>T (p.Gly27=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102840	NM_004373.4(COX6A1):c.82G>C (p.Ala28Pro)	COX6A1 (A28P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076472	NM_004373.4(COX6A1):c.83C>T (p.Ala28Val)	COX6A1 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1646679	NM_004373.4(COX6A1):c.84C>T (p.Ala28=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389610	NM_004373.4(COX6A1):c.96G>C (p.Glu32Asp)	COX6A1 (E32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932292	NM_004373.4(COX6A1):c.101C>G (p.Ser34Ter)	COX6A1 (S34*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 560368	NM_004373.4(COX6A1):c.103+1G>C	COX6A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 682112	NM_004373.4(COX6A1):c.103+12G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2692799	NM_004373.4(COX6A1):c.103+13G>T	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318114	NM_004373.4(COX6A1):c.103+22G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676114	NM_004373.4(COX6A1):c.103+33A>C	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1529237	NM_004373.4(COX6A1):c.104-20C>T	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032116	NM_004373.4(COX6A1):c.104-12G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920369	NM_004373.4(COX6A1):c.104-11C>T	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667201	NM_004373.4(COX6A1):c.104-6C>T	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965765	NM_004373.4(COX6A1):c.104-4G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104051	NM_004373.4(COX6A1):c.104-1G>C	COX6A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2488445	NM_004373.4(COX6A1):c.106C>T (p.Arg36Cys)	COX6A1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1448622	NM_004373.4(COX6A1):c.110T>G (p.Met37Arg)	COX6A1 (M37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012401	NM_004373.4(COX6A1):c.122_123del (p.Leu41fs)	COX6A1 (L41fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1430004	NM_004373.4(COX6A1):c.125C>T (p.Thr42Ile)	COX6A1 (T42I)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2420619	NM_004373.4(COX6A1):c.132C>T (p.Phe44=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982026	NM_004373.4(COX6A1):c.141C>T (p.Leu47=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999782	NM_004373.4(COX6A1):c.141C>A (p.Leu47=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781843	NM_004373.4(COX6A1):c.147G>C (p.Gly49=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004785	NM_004373.4(COX6A1):c.153A>G (p.Ala51=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410560	NM_004373.4(COX6A1):c.160A>G (p.Met54Val)	COX6A1 (M54V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate D +2 more	GUncertain significance
Select item 1411524	NM_004373.4(COX6A1):c.167del (p.Asn56fs)	COX6A1 (N56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1539408	NM_004373.4(COX6A1):c.177G>A (p.Leu59=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493527	NM_004373.4(COX6A1):c.184C>T (p.His62Tyr)	COX6A1 (H62Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417306	NM_004373.4(COX6A1):c.186C>T (p.His62=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357863	NM_004373.4(COX6A1):c.205C>T (p.Pro69Ser)	COX6A1 (P69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461187	NM_004373.4(COX6A1):c.206C>T (p.Pro69Leu)	COX6A1 (P69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432403	NM_004373.4(COX6A1):c.214A>G (p.Ile72Val)	COX6A1 (I72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797086	NM_004373.4(COX6A1):c.216C>T (p.Ile72=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935651	NM_004373.4(COX6A1):c.219C>T (p.Ala73=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661528	NM_004373.4(COX6A1):c.222C>T (p.Tyr74=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668435	NM_004373.4(COX6A1):c.225C>T (p.Pro75=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109792	NM_004373.4(COX6A1):c.226C>A (p.His76Asn)	COX6A1 (H76N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397317	NM_004373.4(COX6A1):c.226C>T (p.His76Tyr)	COX6A1 (H76Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481476	NM_004373.4(COX6A1):c.227A>G (p.His76Arg)	COX6A1 (H76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504128	NM_004373.4(COX6A1):c.229C>G (p.Leu77Val)	COX6A1 (L77V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2990987	NM_004373.4(COX6A1):c.234C>T (p.Arg78=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051569	NM_004373.4(COX6A1):c.246+12T>G	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562770	NM_004373.4(COX6A1):c.246+19C>T	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669703	NM_004373.4(COX6A1):c.246+152T>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320570	NM_004373.4(COX6A1):c.246+245C>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181152	NM_004373.4(COX6A1):c.247-25T>C	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941148	NM_004373.4(COX6A1):c.247-13C>G	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156370	NM_004373.4(COX6A1):c.247-7_247-3del	COX6A1	Deletion (intron variant)	not provided +1 more	GPathogenic
Select item 2996134	NM_004373.4(COX6A1):c.247-6C>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385439	NM_004373.4(COX6A1):c.249G>A (p.Pro83=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3076471	NM_004373.4(COX6A1):c.254C>T (p.Pro85Leu)	COX6A1 (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2958876	NM_004373.4(COX6A1):c.255C>T (p.Pro85=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574366	NM_004373.4(COX6A1):c.255C>A (p.Pro85=)	COX6A1	Single nucleotide variant (synonymous variant)	COX6A1-related condition +1 more	GLikely benign
Select item 1483252	NM_004373.4(COX6A1):c.265G>A (p.Gly89Ser)	COX6A1 (G89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408695	NM_004373.4(COX6A1):c.272A>G (p.His91Arg)	COX6A1 (H91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538756	NM_004373.4(COX6A1):c.276T>C (p.Thr92=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377974	NM_004373.4(COX6A1):c.283C>T (p.His95Tyr)	COX6A1 (H95Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424370	NM_004373.4(COX6A1):c.292C>T (p.His98Tyr)	COX6A1 (H98Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1446739	NM_004373.4(COX6A1):c.310A>G (p.Thr104Ala)	COX6A1 (T104A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014957	NM_004373.4(COX6A1):c.315C>A (p.Gly105=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729328	NM_004373.4(COX6A1):c.318C>T (p.Tyr106=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067616	NM_004373.4(COX6A1):c.319G>A (p.Glu107Lys)	COX6A1 (E107K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1235763	NM_004373.4(COX6A1):c.*190T>C	COX6A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2691407	NC_000012.11:g.(?_120875915)_(120878534_?)dup	COX6A1	Duplication	not specified	GUncertain significance

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