OLFML2A[gene] - 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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +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)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 2510154	NM_182487.4(OLFML2A):c.20C>A (p.Pro7Gln)	LOC130002582, OLFML2A (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224921	NM_182487.4(OLFML2A):c.95T>G (p.Phe32Cys)	OLFML2A (F32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475155	NM_182487.4(OLFML2A):c.143G>A (p.Arg48His)	OLFML2A (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542096	NM_182487.4(OLFML2A):c.154A>C (p.Ile52Leu)	OLFML2A (I52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405880	NM_182487.4(OLFML2A):c.161G>A (p.Arg54Gln)	OLFML2A (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538261	NM_182487.4(OLFML2A):c.208C>T (p.Arg70Cys)	OLFML2A (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298499	NM_182487.4(OLFML2A):c.290T>C (p.Leu97Pro)	OLFML2A (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204238	NM_182487.4(OLFML2A):c.295C>T (p.Pro99Ser)	OLFML2A (P99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459245	NM_182487.4(OLFML2A):c.307G>A (p.Glu103Lys)	OLFML2A (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294521	NM_182487.4(OLFML2A):c.309G>C (p.Glu103Asp)	OLFML2A (E103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204239	NM_182487.4(OLFML2A):c.332A>G (p.Lys111Arg)	OLFML2A (K111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340185	NM_182487.4(OLFML2A):c.364A>C (p.Met122Leu)	OLFML2A (M122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329689	NM_182487.4(OLFML2A):c.418G>A (p.Ala140Thr)	OLFML2A (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274967	NM_182487.4(OLFML2A):c.470A>G (p.Lys157Arg)	OLFML2A (K157R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204240	NM_182487.4(OLFML2A):c.485G>A (p.Arg162Gln)	OLFML2A (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204241	NM_182487.4(OLFML2A):c.514C>G (p.Arg172Gly)	OLFML2A (R172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475527	NM_182487.4(OLFML2A):c.865C>T (p.Arg289Trp)	OLFML2A (R75W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236591	NM_182487.4(OLFML2A):c.866G>A (p.Arg289Gln)	OLFML2A (R75Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204243	NM_182487.4(OLFML2A):c.907G>C (p.Glu303Gln)	OLFML2A (E303Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210471	NM_182487.4(OLFML2A):c.921C>G (p.Asp307Glu)	OLFML2A (D307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204244	NM_182487.4(OLFML2A):c.959C>T (p.Pro320Leu)	OLFML2A (P320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538153	NM_182487.4(OLFML2A):c.1003G>A (p.Ala335Thr)	OLFML2A (A121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474047	NM_182487.4(OLFML2A):c.1006G>A (p.Glu336Lys)	OLFML2A (E336K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204222	NM_182487.4(OLFML2A):c.1025C>T (p.Pro342Leu)	OLFML2A (P128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342128	NM_182487.4(OLFML2A):c.1061C>A (p.Thr354Asn)	OLFML2A (T140N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204223	NM_182487.4(OLFML2A):c.1072A>G (p.Ile358Val)	OLFML2A (I358V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362713	NM_182487.4(OLFML2A):c.1081A>C (p.Thr361Pro)	OLFML2A (T361P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359048	NM_182487.4(OLFML2A):c.1084A>C (p.Thr362Pro)	OLFML2A (T148P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359049	NM_182487.4(OLFML2A):c.1087A>C (p.Thr363Pro)	OLFML2A (T149P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595309	NM_182487.4(OLFML2A):c.1090A>G (p.Thr364Ala)	OLFML2A (T150A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255249	NM_182487.4(OLFML2A):c.1091C>T (p.Thr364Ile)	OLFML2A (T150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681449	NM_182487.4(OLFML2A):c.1093G>A (p.Ala365Thr)	OLFML2A (A151T +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3204224	NM_182487.4(OLFML2A):c.1099A>C (p.Thr367Pro)	OLFML2A (T153P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204225	NM_182487.4(OLFML2A):c.1102A>G (p.Thr368Ala)	OLFML2A (T154A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359050	NM_182487.4(OLFML2A):c.1102A>C (p.Thr368Pro)	OLFML2A (T368P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346852	NM_182487.4(OLFML2A):c.1129C>A (p.Pro377Thr)	OLFML2A (P377T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598103	NM_182487.4(OLFML2A):c.1139C>T (p.Pro380Leu)	OLFML2A (P380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598859	NM_182487.4(OLFML2A):c.1177G>A (p.Ala393Thr)	OLFML2A (A179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204226	NM_182487.4(OLFML2A):c.1184G>C (p.Cys395Ser)	OLFML2A (C181S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544048	NM_182487.4(OLFML2A):c.1186G>A (p.Glu396Lys)	OLFML2A (E396K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589832	NM_182487.4(OLFML2A):c.1189G>A (p.Gly397Ser)	OLFML2A (G183S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410377	NM_182487.4(OLFML2A):c.1198C>T (p.Arg400Trp)	OLFML2A (R400W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204228	NM_182487.4(OLFML2A):c.1222C>T (p.His408Tyr)	OLFML2A (H194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402078	NM_182487.4(OLFML2A):c.1243G>A (p.Glu415Lys)	OLFML2A (E415K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204229	NM_182487.4(OLFML2A):c.1246G>A (p.Gly416Arg)	OLFML2A (G416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286188	NM_182487.4(OLFML2A):c.1250C>T (p.Ala417Val)	OLFML2A (A203V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276538	NM_182487.4(OLFML2A):c.1289A>G (p.Tyr430Cys)	OLFML2A (Y216C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204230	NM_182487.4(OLFML2A):c.1304A>G (p.Tyr435Cys)	OLFML2A (Y221C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296894	NM_182487.4(OLFML2A):c.1349A>T (p.Lys450Met)	OLFML2A (K236M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349036	NM_182487.4(OLFML2A):c.1381C>T (p.Pro461Ser)	OLFML2A (P461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598228	NM_182487.4(OLFML2A):c.1396G>A (p.Gly466Ser)	OLFML2A (G466S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258702	NM_182487.4(OLFML2A):c.1406A>T (p.His469Leu)	OLFML2A (H255L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331267	NM_182487.4(OLFML2A):c.1450A>G (p.Lys484Glu)	OLFML2A (K270E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204231	NM_182487.4(OLFML2A):c.1456A>G (p.Ile486Val)	OLFML2A (I272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217243	NM_182487.4(OLFML2A):c.1468G>A (p.Asp490Asn)	OLFML2A (D276N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204232	NM_182487.4(OLFML2A):c.1513G>A (p.Val505Met)	OLFML2A (V291M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529278	NM_182487.4(OLFML2A):c.1540A>G (p.Lys514Glu)	OLFML2A (K514E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211288	NM_182487.4(OLFML2A):c.1550G>T (p.Gly517Val)	OLFML2A (G303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618210	NM_182487.4(OLFML2A):c.1573G>T (p.Val525Leu)	OLFML2A (V525L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350853	NM_182487.4(OLFML2A):c.1579G>A (p.Glu527Lys)	OLFML2A (E527K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208261	NM_182487.4(OLFML2A):c.1585G>A (p.Gly529Ser)	OLFML2A (G315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271771	NM_182487.4(OLFML2A):c.1609G>A (p.Val537Met)	OLFML2A (V323M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318016	NM_182487.4(OLFML2A):c.1618C>A (p.Arg540Ser)	OLFML2A (R326S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244237	NM_182487.4(OLFML2A):c.1669G>A (p.Asp557Asn)	OLFML2A (D343N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204233	NM_182487.4(OLFML2A):c.1678G>A (p.Val560Met)	OLFML2A (V346M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204234	NM_182487.4(OLFML2A):c.1705C>T (p.Arg569Trp)	OLFML2A (R355W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398850	NM_182487.4(OLFML2A):c.1813C>G (p.His605Asp)	OLFML2A (H605D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519715	NM_182487.4(OLFML2A):c.1816A>C (p.Thr606Pro)	OLFML2A (T606P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601441	NM_182487.4(OLFML2A):c.1832G>A (p.Arg611His)	OLFML2A (R397H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307600	NM_182487.4(OLFML2A):c.1855G>A (p.Glu619Lys)	OLFML2A (E405K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316166	NM_182487.4(OLFML2A):c.1859A>G (p.His620Arg)	OLFML2A (H406R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394055	NM_182487.4(OLFML2A):c.1861G>A (p.Ala621Thr)	OLFML2A (A407T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204236	NM_182487.4(OLFML2A):c.1950C>G (p.Phe650Leu)	OLFML2A (F436L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253851	NM_182487.4(OLFML2A):c.1951G>C (p.Val651Leu)	OLFML2A (V437L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063097	GRCh37/hg19 9q33.3(chr9:127471268-127701091)x3	ARPC5L, GOLGA1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic

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