OLFML2B[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 3204253	NM_015441.3(OLFML2B):c.2234A>T (p.His745Leu)	OLFML2B (H746L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302290	NM_015441.3(OLFML2B):c.2165C>A (p.Thr722Asn)	OLFML2B (T723N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233834	NM_015441.3(OLFML2B):c.2143G>A (p.Glu715Lys)	OLFML2B (E715K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553099	NM_015441.3(OLFML2B):c.2030T>G (p.Phe677Cys)	OLFML2B (F677C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217140	NM_015441.3(OLFML2B):c.2021G>A (p.Gly674Asp)	OLFML2B (G674D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3204252	NM_015441.3(OLFML2B):c.2006G>A (p.Arg669Gln)	OLFML2B (R669Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204251	NM_015441.3(OLFML2B):c.1994G>A (p.Arg665His)	OLFML2B (R665H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245405	NM_015441.3(OLFML2B):c.1973C>T (p.Thr658Ile)	OLFML2B (T659I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459527	NM_015441.3(OLFML2B):c.1960G>A (p.Ala654Thr)	OLFML2B (A654T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302287	NM_015441.3(OLFML2B):c.1912G>A (p.Asp638Asn)	OLFML2B (D639N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363728	NM_015441.3(OLFML2B):c.1910A>G (p.Asp637Gly)	OLFML2B (D637G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780275	NM_015441.3(OLFML2B):c.1788T>C (p.Ala596=)	OLFML2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2297014	NM_015441.3(OLFML2B):c.1751A>G (p.Asn584Ser)	OLFML2B (N585S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594908	NM_015441.3(OLFML2B):c.1738G>T (p.Ala580Ser)	OLFML2B (A582S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590500	NM_015441.3(OLFML2B):c.1702C>T (p.His568Tyr)	OLFML2B (H568Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639518	NM_015441.3(OLFML2B):c.1669T>C (p.Tyr557His)	OLFML2B (Y557H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3302286	NM_015441.3(OLFML2B):c.1612A>G (p.Thr538Ala)	OLFML2B (T540A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217141	NM_015441.3(OLFML2B):c.1606G>A (p.Gly536Ser)	OLFML2B (G536S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2297637	NM_015441.3(OLFML2B):c.1588G>T (p.Val530Leu)	OLFML2B (V532L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217139	NM_015441.3(OLFML2B):c.1580G>A (p.Arg527Gln)	OLFML2B (R527Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302291	NM_015441.3(OLFML2B):c.1571A>T (p.Lys524Met)	OLFML2B (K525M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217138	NM_015441.3(OLFML2B):c.1544G>A (p.Gly515Glu)	OLFML2B (G515E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302288	NM_015441.3(OLFML2B):c.1505C>T (p.Thr502Met)	OLFML2B (T502M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257208	NM_015441.3(OLFML2B):c.1475G>A (p.Gly492Glu)	OLFML2B (G493E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391085	NM_015441.3(OLFML2B):c.1471A>G (p.Ile491Val)	OLFML2B (I491V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204250	NM_015441.3(OLFML2B):c.1463G>A (p.Arg488Gln)	OLFML2B (R489Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204249	NM_015441.3(OLFML2B):c.1412G>T (p.Gly471Val)	OLFML2B (G473V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361827	NM_015441.3(OLFML2B):c.1382C>T (p.Ser461Leu)	OLFML2B (S462L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204248	NM_015441.3(OLFML2B):c.1378G>C (p.Asp460His)	OLFML2B (D462H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204247	NM_015441.3(OLFML2B):c.1369G>C (p.Val457Leu)	OLFML2B (V459L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204246	NM_015441.3(OLFML2B):c.1358C>T (p.Pro453Leu)	OLFML2B (P453L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217137	NM_015441.3(OLFML2B):c.1306G>T (p.Ala436Ser)	OLFML2B (A436S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2292451	NM_015441.3(OLFML2B):c.1291G>A (p.Ala431Thr)	OLFML2B (A432T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495699	NM_015441.3(OLFML2B):c.1286C>T (p.Pro429Leu)	OLFML2B (P431L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250636	NM_015441.3(OLFML2B):c.1265C>T (p.Ala422Val)	OLFML2B (A422V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204245	NM_015441.3(OLFML2B):c.1196C>T (p.Ser399Leu)	OLFML2B (S399L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363476	NM_015441.3(OLFML2B):c.1087G>A (p.Asp363Asn)	OLFML2B (D363N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217136	NM_015441.3(OLFML2B):c.1058G>A (p.Arg353His)	OLFML2B (R353H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775620	NM_015441.3(OLFML2B):c.1047T>C (p.Pro349=)	OLFML2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 217135	NM_015441.3(OLFML2B):c.1039C>T (p.Arg347Trp)	OLFML2B (R347W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 791819	NM_015441.3(OLFML2B):c.1017C>T (p.Asn339=)	OLFML2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494213	NM_015441.3(OLFML2B):c.1014C>G (p.His338Gln)	OLFML2B (H339Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215326	NM_015441.3(OLFML2B):c.916G>T (p.Val306Phe)	OLFML2B (V308F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219395	NM_015441.3(OLFML2B):c.889C>T (p.Arg297Trp)	OLFML2B (R297W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361307	NM_015441.3(OLFML2B):c.862C>G (p.Arg288Gly)	OLFML2B (R290G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621181	NM_015441.3(OLFML2B):c.829C>T (p.Arg277Trp)	OLFML2B (R277W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204259	NM_015441.3(OLFML2B):c.775A>G (p.Ile259Val)	OLFML2B (I261V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204258	NM_015441.3(OLFML2B):c.754G>A (p.Val252Met)	OLFML2B (V253M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204256	NM_015441.3(OLFML2B):c.730G>C (p.Glu244Gln)	OLFML2B (E244Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605021	NM_015441.3(OLFML2B):c.677G>A (p.Arg226His)	OLFML2B (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622220	NM_015441.3(OLFML2B):c.661A>G (p.Ser221Gly)	OLFML2B (S221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264183	NM_015441.3(OLFML2B):c.626G>A (p.Arg209Gln)	OLFML2B (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213218	NM_015441.3(OLFML2B):c.577G>A (p.Glu193Lys)	OLFML2B (E193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387052	NM_015441.3(OLFML2B):c.557A>T (p.Lys186Ile)	OLFML2B (K186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475411	NM_015441.3(OLFML2B):c.539T>C (p.Leu180Pro)	OLFML2B (L180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570532	NM_015441.3(OLFML2B):c.527G>A (p.Arg176Gln)	OLFML2B (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302289	NM_015441.3(OLFML2B):c.400C>T (p.Leu134Phe)	OLFML2B (L134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522522	NM_015441.3(OLFML2B):c.368C>T (p.Ser123Leu)	OLFML2B (S123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488910	NM_015441.3(OLFML2B):c.302A>C (p.Asp101Ala)	OLFML2B (D101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469799	NM_015441.3(OLFML2B):c.286G>A (p.Ala96Thr)	OLFML2B (A96T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351234	NM_015441.3(OLFML2B):c.257G>A (p.Arg86Gln)	OLFML2B (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560090	NM_015441.3(OLFML2B):c.247C>A (p.Pro83Thr)	OLFML2B (P83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403570	NM_015441.3(OLFML2B):c.170C>T (p.Ser57Phe)	OLFML2B (S57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302292	NM_015441.3(OLFML2B):c.116C>T (p.Pro39Leu)	OLFML2B (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204260	NM_015441.3(OLFML2B):c.95C>T (p.Pro32Leu)	OLFML2B (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217134	NM_015441.3(OLFML2B):c.44T>G (p.Val15Gly)	OLFML2B (V15G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3204255	NM_015441.3(OLFML2B):c.34G>A (p.Ala12Thr)	OLFML2B (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1401040	NC_000001.10:g.(?_161816219)_(162040092_?)dup	ATF6, NOS1AP +1 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 84