CORO7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	LOC125146386, LOC130058361 +40 more	Deletion	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 218341	NM_024535.5(CORO7):c.2772+50C>T	CORO7, CORO7-PAM16	Single nucleotide variant (intron variant)	Mediastinal germ cell tumor +1 more	GUncertain significance
Select item 2457211	NM_001201479.2(CORO7-PAM16):c.2626C>T (p.Arg876Trp)	CORO7, CORO7-PAM16 (R656W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785522	NM_024535.5(CORO7):c.2218C>T (p.Pro740Ser)	CORO7, CORO7-PAM16 (P722S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2245068	NM_024535.5(CORO7):c.1802G>A (p.Arg601His)	CORO7, CORO7-PAM16 (R516H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568435	NM_024535.5(CORO7):c.964G>A (p.Val322Ile)	CORO7, CORO7-PAM16 (V102I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646147	NM_024535.5(CORO7):c.888G>A (p.Ala296=)	CORO7, CORO7-PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188247	NM_138440.3(VASN):c.61G>C (p.Val21Leu)	CORO7, CORO7-PAM16 +1 more (V21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236214	NM_138440.3(VASN):c.67G>A (p.Gly23Ser)	CORO7, CORO7-PAM16 +1 more (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188250	NM_138440.3(VASN):c.79G>A (p.Gly27Ser)	CORO7, CORO7-PAM16 +1 more (G27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188227	NM_138440.3(VASN):c.122G>A (p.Arg41His)	CORO7, CORO7-PAM16 +1 more (R41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188230	NM_138440.3(VASN):c.131C>A (p.Thr44Asn)	CORO7, CORO7-PAM16 +1 more (T44N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331868	NM_138440.3(VASN):c.202G>A (p.Asp68Asn)	CORO7, CORO7-PAM16 +1 more (D68N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385557	NM_138440.3(VASN):c.253C>A (p.Gln85Lys)	CORO7, CORO7-PAM16 +1 more (Q85K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331869	NM_138440.3(VASN):c.265G>T (p.Ala89Ser)	CORO7, CORO7-PAM16 +1 more (A89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463178	NM_138440.3(VASN):c.298G>A (p.Ala100Thr)	CORO7, CORO7-PAM16 +1 more (A100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332171	NM_138440.3(VASN):c.302A>T (p.Asn101Ile)	CORO7, CORO7-PAM16 +1 more (N101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188242	NM_138440.3(VASN):c.373C>T (p.Arg125Cys)	CORO7, CORO7-PAM16 +1 more (R125C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360754	NM_138440.3(VASN):c.379G>C (p.Glu127Gln)	CORO7, CORO7-PAM16 +1 more (E127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188243	NM_138440.3(VASN):c.403C>T (p.Arg135Cys)	CORO7, CORO7-PAM16 +1 more (R135C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268058	NM_138440.3(VASN):c.409C>T (p.Arg137Cys)	CORO7, CORO7-PAM16 +1 more (R137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228171	NM_138440.3(VASN):c.410G>A (p.Arg137His)	CORO7, CORO7-PAM16 +1 more (R137H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2246564	NM_138440.3(VASN):c.412C>T (p.His138Tyr)	CORO7, CORO7-PAM16 +1 more (H138Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609298	NM_138440.3(VASN):c.442G>A (p.Asp148Asn)	CORO7, CORO7-PAM16 +1 more (D148N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603338	NM_138440.3(VASN):c.445C>T (p.Arg149Cys)	CORO7, CORO7-PAM16 +1 more (R149C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471472	NM_138440.3(VASN):c.469G>A (p.Asp157Asn)	CORO7, CORO7-PAM16 +1 more (D157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188244	NM_138440.3(VASN):c.477G>T (p.Glu159Asp)	CORO7, CORO7-PAM16 +1 more (E159D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188245	NM_138440.3(VASN):c.494C>T (p.Pro165Leu)	CORO7, CORO7-PAM16 +1 more (P165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188246	NM_138440.3(VASN):c.508C>T (p.Arg170Cys)	CORO7, CORO7-PAM16 +1 more (R170C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386063	NM_138440.3(VASN):c.538A>C (p.Ser180Arg)	CORO7, CORO7-PAM16 +1 more (S180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266135	NM_138440.3(VASN):c.565C>G (p.Leu189Val)	CORO7, CORO7-PAM16 +1 more (L189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259555	NM_138440.3(VASN):c.602G>T (p.Gly201Val)	CORO7, CORO7-PAM16 +1 more (G201V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565248	NM_138440.3(VASN):c.641G>A (p.Arg214His)	CORO7-PAM16, VASN +1 more (R214H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205491	NM_138440.3(VASN):c.646C>T (p.Arg216Cys)	CORO7, CORO7-PAM16 +1 more (R216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711641	NM_138440.3(VASN):c.705C>T (p.Ile235=)	CORO7, CORO7-PAM16 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3188248	NM_138440.3(VASN):c.725C>T (p.Thr242Met)	CORO7, CORO7-PAM16 +1 more (T242M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331863	NM_138440.3(VASN):c.728G>T (p.Arg243Leu)	CORO7, CORO7-PAM16 +1 more (R243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188249	NM_138440.3(VASN):c.734G>A (p.Arg245Gln)	CORO7, CORO7-PAM16 +1 more (R245Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331866	NM_138440.3(VASN):c.766C>T (p.Arg256Trp)	CORO7, CORO7-PAM16 +1 more (R256W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387998	NM_138440.3(VASN):c.770C>T (p.Pro257Leu)	CORO7, CORO7-PAM16 +1 more (P257L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331864	NM_138440.3(VASN):c.841G>A (p.Gly281Ser)	CORO7, CORO7-PAM16 +1 more (G281S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3188251	NM_138440.3(VASN):c.844G>A (p.Asp282Asn)	CORO7, CORO7-PAM16 +1 more (D282N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622116	NM_138440.3(VASN):c.865C>T (p.Arg289Cys)	CORO7, CORO7-PAM16 +1 more (R289C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363514	NM_138440.3(VASN):c.890G>A (p.Arg297His)	CORO7, CORO7-PAM16 +1 more (R297H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590628	NM_138440.3(VASN):c.907G>A (p.Val303Met)	CORO7, CORO7-PAM16 +1 more (V303M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294538	NM_138440.3(VASN):c.974A>G (p.Glu325Gly)	CORO7, CORO7-PAM16 +1 more (E325G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188252	NM_138440.3(VASN):c.980G>A (p.Arg327His)	CORO7, CORO7-PAM16 +1 more (R327H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336196	NM_138440.3(VASN):c.992C>A (p.Pro331Gln)	CORO7, CORO7-PAM16 +1 more (P331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188224	NM_138440.3(VASN):c.1009C>T (p.Arg337Trp)	CORO7, CORO7-PAM16 +1 more (R337W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188225	NM_138440.3(VASN):c.1082C>T (p.Thr361Met)	CORO7, CORO7-PAM16 +1 more (T361M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465603	NM_138440.3(VASN):c.1085G>A (p.Arg362Lys)	CORO7, CORO7-PAM16 +1 more (R362K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589966	NM_138440.3(VASN):c.1097G>A (p.Arg366Gln)	CORO7, CORO7-PAM16 +1 more (R366Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517204	NM_138440.3(VASN):c.1154C>T (p.Pro385Leu)	CORO7, CORO7-PAM16 +1 more (P385L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188226	NM_138440.3(VASN):c.1193C>T (p.Pro398Leu)	CORO7, CORO7-PAM16 +1 more (P398L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539018	NM_138440.3(VASN):c.1198G>A (p.Val400Ile)	CORO7, CORO7-PAM16 +1 more (V400I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489761	NM_138440.3(VASN):c.1216C>T (p.Pro406Ser)	CORO7, CORO7-PAM16 +1 more (P406S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188228	NM_138440.3(VASN):c.1232C>T (p.Pro411Leu)	CORO7, CORO7-PAM16 +1 more (P411L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331867	NM_138440.3(VASN):c.1234T>C (p.Ser412Pro)	CORO7, CORO7-PAM16 +1 more (S412P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188229	NM_138440.3(VASN):c.1247A>G (p.Asn416Ser)	CORO7, CORO7-PAM16 +1 more (N416S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371761	NM_138440.3(VASN):c.1273C>T (p.Arg425Trp)	CORO7, CORO7-PAM16 +1 more (R425W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240219	NM_138440.3(VASN):c.1276C>T (p.His426Tyr)	CORO7, CORO7-PAM16 +1 more (H426Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594249	NM_138440.3(VASN):c.1280A>G (p.His427Arg)	CORO7, CORO7-PAM16 +1 more (H427R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569496	NM_138440.3(VASN):c.1304G>C (p.Gly435Ala)	CORO7, CORO7-PAM16 +1 more (G435A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514020	NM_138440.3(VASN):c.1304G>T (p.Gly435Val)	CORO7, CORO7-PAM16 +1 more (G435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188231	NM_138440.3(VASN):c.1331A>G (p.Gln444Arg)	CORO7, CORO7-PAM16 +1 more (Q444R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2209956	NM_138440.3(VASN):c.1385G>A (p.Arg462Gln)	CORO7, CORO7-PAM16 +1 more (R462Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207933	NM_138440.3(VASN):c.1394C>T (p.Thr465Ile)	CORO7, CORO7-PAM16 +1 more (T465I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188232	NM_138440.3(VASN):c.1409C>T (p.Pro470Leu)	CORO7, CORO7-PAM16 +1 more (P470L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213077	NM_138440.3(VASN):c.1432G>A (p.Val478Met)	CORO7, CORO7-PAM16 +1 more (V478M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302971	NM_138440.3(VASN):c.1461C>G (p.Ser487Arg)	CORO7, CORO7-PAM16 +1 more (S487R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188233	NM_138440.3(VASN):c.1465G>A (p.Val489Met)	CORO7, CORO7-PAM16 +1 more (V489M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331865	NM_138440.3(VASN):c.1495C>T (p.Arg499Cys)	CORO7, CORO7-PAM16 +1 more (R499C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188234	NM_138440.3(VASN):c.1576C>T (p.Arg526Trp)	CORO7, CORO7-PAM16 +1 more (R526W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376996	NM_138440.3(VASN):c.1606A>G (p.Met536Val)	CORO7, CORO7-PAM16 +1 more (M536V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212475	NM_138440.3(VASN):c.1624C>T (p.Arg542Trp)	CORO7, CORO7-PAM16 +1 more (R542W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380646	NM_138440.3(VASN):c.1625G>A (p.Arg542Gln)	CORO7, CORO7-PAM16 +1 more (R542Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360635	NM_138440.3(VASN):c.1651G>A (p.Gly551Arg)	CORO7, CORO7-PAM16 +1 more (G551R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188235	NM_138440.3(VASN):c.1661A>G (p.His554Arg)	CORO7, CORO7-PAM16 +1 more (H554R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618732	NM_138440.3(VASN):c.1687C>T (p.His563Tyr)	CORO7, CORO7-PAM16 +1 more (H563Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188236	NM_138440.3(VASN):c.1690G>A (p.Ala564Thr)	CORO7, CORO7-PAM16 +1 more (A564T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386662	NM_138440.3(VASN):c.1711G>A (p.Glu571Lys)	CORO7, CORO7-PAM16 +1 more (E571K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188237	NM_138440.3(VASN):c.1727T>A (p.Leu576His)	CORO7, CORO7-PAM16 +1 more (L576H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364991	NM_138440.3(VASN):c.1750G>A (p.Ala584Thr)	CORO7, CORO7-PAM16 +1 more (A584T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188238	NM_138440.3(VASN):c.1765G>A (p.Ala589Thr)	CORO7, CORO7-PAM16 +1 more (A589T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188239	NM_138440.3(VASN):c.1858G>T (p.Gly620Trp)	CORO7, CORO7-PAM16 +1 more (G620W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235908	NM_138440.3(VASN):c.1862C>T (p.Pro621Leu)	CORO7, CORO7-PAM16 +1 more (P621L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597737	NM_138440.3(VASN):c.1906A>G (p.Lys636Glu)	CORO7, CORO7-PAM16 +1 more (K636E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373539	NM_138440.3(VASN):c.1908G>T (p.Lys636Asn)	CORO7, CORO7-PAM16 +1 more (K636N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188240	NM_138440.3(VASN):c.1936C>T (p.Pro646Ser)	CORO7, CORO7-PAM16 +1 more (P646S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188241	NM_138440.3(VASN):c.1966A>G (p.Met656Val)	CORO7, CORO7-PAM16 +1 more (M656V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331870	NM_138440.3(VASN):c.1996C>T (p.Pro666Ser)	CORO7, CORO7-PAM16 +1 more (P666S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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