ClinVar for Gene (Select 283298) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3409957	NM_198474.4(OLFML1):c.536T>C (p.Ile179Thr)	LOC124902806, OLFML1 (I179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3409956	NM_198474.4(OLFML1):c.614G>A (p.Arg205Gln)	LOC124902806, OLFML1 (R205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3409955	NM_198474.4(OLFML1):c.961T>C (p.Phe321Leu)	LOC124902806, OLFML1 (F321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3409954	NM_198474.4(OLFML1):c.296T>C (p.Ile99Thr)	OLFML1 (I99T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392381	GRCh37/hg19 11p15.4(chr11:7380898-7678627)x1	OLFML1, PPFIBP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 3302274	NM_198474.4(OLFML1):c.926A>G (p.Asp309Gly)	LOC124902806, OLFML1 (D173G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302273	NM_198474.4(OLFML1):c.328G>A (p.Glu110Lys)	OLFML1 (E110K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302272	NM_198474.4(OLFML1):c.1138C>G (p.Leu380Val)	LOC124902806, OLFML1 (L244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204221	NM_198474.4(OLFML1):c.809T>C (p.Ile270Thr)	LOC124902806, OLFML1 (I134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204220	NM_198474.4(OLFML1):c.778T>A (p.Leu260Met)	LOC124902806, OLFML1 (L124M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204219	NM_198474.4(OLFML1):c.695C>T (p.Thr232Ile)	LOC124902806, OLFML1 (T232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204218	NM_198474.4(OLFML1):c.691G>A (p.Ala231Thr)	LOC124902806, OLFML1 (A95T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204217	NM_198474.4(OLFML1):c.535A>T (p.Ile179Phe)	LOC124902806, OLFML1 (I179F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204216	NM_198474.4(OLFML1):c.41T>G (p.Leu14Arg)	OLFML1 (L14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204215	NM_198474.4(OLFML1):c.299A>T (p.Asp100Val)	OLFML1 (D100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204214	NM_198474.4(OLFML1):c.112C>A (p.Arg38Ser)	OLFML1 (R38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604512	NM_198474.4(OLFML1):c.863C>G (p.Thr288Ser)	LOC124902806, OLFML1 (T152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593138	NM_198474.4(OLFML1):c.1155A>C (p.Glu385Asp)	LOC124902806, OLFML1 (E249D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535241	NM_198474.4(OLFML1):c.1102C>T (p.His368Tyr)	LOC124902806, OLFML1 (H232Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2493784	NM_198474.4(OLFML1):c.683A>G (p.His228Arg)	LOC124902806, OLFML1 (H228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487246	NM_198474.4(OLFML1):c.280C>A (p.Arg94Ser)	OLFML1 (R94S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392093	NM_198474.4(OLFML1):c.805T>A (p.Tyr269Asn)	LOC124902806, OLFML1 (Y133N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364183	NM_198474.4(OLFML1):c.848A>G (p.His283Arg)	LOC124902806, OLFML1 (H147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348567	NM_198474.4(OLFML1):c.581C>T (p.Ala194Val)	LOC124902806, OLFML1 (A58V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340886	NM_198474.4(OLFML1):c.499G>T (p.Asp167Tyr)	LOC124902806, OLFML1 (D167Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303414	NM_198474.4(OLFML1):c.401G>A (p.Arg134Gln)	OLFML1 (R134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284051	NM_198474.4(OLFML1):c.365T>C (p.Met122Thr)	OLFML1 (M122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270375	NM_198474.4(OLFML1):c.896C>T (p.Pro299Leu)	LOC124902806, OLFML1 (P163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262866	NM_198474.4(OLFML1):c.994A>G (p.Ser332Gly)	LOC124902806, OLFML1 (S332G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209299	NM_198474.4(OLFML1):c.157A>G (p.Thr53Ala)	OLFML1 (T53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809062	GRCh37/hg19 11p15.4(chr11:7326212-7525985)x3	OLFML1, SYT9	Copy number gain	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527627	GRCh37/hg19 11p15.4(chr11:7502249-7570109)	OLFML1, PPFIBP2	Copy number loss	not specified	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 153246	GRCh38/hg38 11p15.4(chr11:7359664-7657396)x1	LOC113939928, LOC124902806 +25 more	Copy number loss	See cases	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 150272	GRCh38/hg38 11p15.4(chr11:7187414-7707594)x3	CYB5R2, LOC113939928 +34 more	Copy number gain	See cases	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51