LRFN5[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 150156	GRCh38/hg38 14q21.1-21.2(chr14:40490718-43709934)x3	LINC02315, LOC125024475 +4 more	Copy number gain	See cases	GLikely benign
Select item 154608	GRCh38/hg38 14q21.1(chr14:41412898-41858679)x1	LRFN5	Copy number loss	See cases	GUncertain significance
Select item 3119969	NM_152447.5(LRFN5):c.16T>C (p.Phe6Leu)	LRFN5 (F6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478473	NM_152447.5(LRFN5):c.144C>A (p.Asn48Lys)	LRFN5 (N48K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041312	NM_152447.5(LRFN5):c.177A>C (p.Ala59=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	LRFN5-related disorder	GBenign
Select item 717012	NM_152447.5(LRFN5):c.258A>G (p.Thr86=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	LRFN5-related disorder +1 more	GLikely benign
Select item 3119970	NM_152447.5(LRFN5):c.352A>G (p.Met118Val)	LRFN5 (M118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399407	NM_152447.5(LRFN5):c.416C>G (p.Ser139Cys)	LRFN5 (S139C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042008	NM_152447.5(LRFN5):c.441C>T (p.Phe147=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	LRFN5-related disorder	GBenign
Select item 2469741	NM_152447.5(LRFN5):c.467A>G (p.Tyr156Cys)	LRFN5 (Y156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 224999	NM_152447.5(LRFN5):c.575C>T (p.Ser192Phe)	LRFN5 (S192F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 795095	NM_152447.5(LRFN5):c.594T>C (p.Thr198=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2291889	NM_152447.5(LRFN5):c.788G>A (p.Cys263Tyr)	LRFN5 (C263Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119971	NM_152447.5(LRFN5):c.815G>A (p.Arg272His)	LRFN5 (R272H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291281	NM_152447.5(LRFN5):c.821T>A (p.Phe274Tyr)	LRFN5 (F274Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225025	NM_152447.5(LRFN5):c.869C>T (p.Thr290Ile)	LRFN5 (T290I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3046343	NM_152447.5(LRFN5):c.945G>A (p.Glu315=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	LRFN5-related disorder	GLikely benign
Select item 3291282	NM_152447.5(LRFN5):c.974G>A (p.Gly325Glu)	LRFN5 (G325E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621687	NM_152447.5(LRFN5):c.994A>T (p.Thr332Ser)	LRFN5 (T332S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119966	NM_152447.5(LRFN5):c.1102C>G (p.Gln368Glu)	LRFN5 (Q368E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047050	NM_152447.5(LRFN5):c.1221A>G (p.Thr407=)	LRFN5	Single nucleotide variant (synonymous variant +1 more)	LRFN5-related disorder	GLikely benign
Select item 3291280	NM_152447.5(LRFN5):c.1270G>A (p.Ala424Thr)	LRFN5 (A424T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119967	NM_152447.5(LRFN5):c.1289C>T (p.Thr430Met)	LRFN5 (T430M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352575	NM_152447.5(LRFN5):c.1327G>A (p.Gly443Arg)	LRFN5 (G443R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622261	NM_152447.5(LRFN5):c.1384A>G (p.Arg462Gly)	LRFN5 (R462G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366801	NM_152447.5(LRFN5):c.1475A>G (p.Asp492Gly)	LRFN5 (D492G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325460	NM_152447.5(LRFN5):c.1558A>T (p.Met520Leu)	LRFN5 (M520L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3060632	NM_152447.5(LRFN5):c.1566T>C (p.Ser522=)	LRFN5	Single nucleotide variant (synonymous variant +2 more)	LRFN5-related disorder	GBenign
Select item 2681378	NM_152447.5(LRFN5):c.1630T>G (p.Phe544Val)	LRFN5 (F544V)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3119968	NM_152447.5(LRFN5):c.1664G>T (p.Cys555Phe)	LRFN5 (C555F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370277	NM_152447.5(LRFN5):c.1691C>T (p.Thr564Ile)	LRFN5 (T564I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292997	NM_152447.5(LRFN5):c.1700G>A (p.Ser567Asn)	LRFN5 (S567N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3050478	NM_152447.5(LRFN5):c.1865C>T (p.Ser622Phe)	LRFN5 (S622F)	Single nucleotide variant (missense variant +2 more)	LRFN5-related disorder	GBenign
Select item 2375366	NM_152447.5(LRFN5):c.1870A>T (p.Thr624Ser)	LRFN5 (T624S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3045528	NM_152447.5(LRFN5):c.2043T>A (p.Arg681=)	LRFN5	Single nucleotide variant (synonymous variant +2 more)	LRFN5-related disorder	GLikely benign
Select item 3048932	NM_152447.5(LRFN5):c.2055T>G (p.Ser685=)	LRFN5	Single nucleotide variant (synonymous variant +2 more)	LRFN5-related disorder	GBenign
Select item 2285735	NM_152447.5(LRFN5):c.2088T>G (p.His696Gln)	LRFN5 (H696Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3051943	NM_152447.5(LRFN5):c.2143-24CTTTTT[3]	LRFN5	Microsatellite (intron variant)	LRFN5-related disorder	GLikely benign
Select item 3055940	NM_152447.5(LRFN5):c.2151G>A (p.Glu717=)	LRFN5	Single nucleotide variant (3 prime UTR variant +2 more)	LRFN5-related disorder	GBenign
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684723	GRCh37/hg19 14q21.1(chr14:41206786-42315336)x3	LRFN5	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 929403	GRCh37/hg19 14q21.1(chr14:42100553-42468545)x1	LRFN5	Copy number loss	See cases	GUncertain significance
Select item 929353	GRCh37/hg19 14q21.1(chr14:42100553-42446967)x1	LRFN5	Copy number loss	See cases	GUncertain significance
Select item 815649	GRCh37/hg19 14q21.1(chr14:42345110-42628052)x3	LRFN5	Copy number gain	not provided	GUncertain significance
Select item 815648	GRCh37/hg19 14q21.1(chr14:42197265-42315336)x1	LRFN5	Copy number loss	not provided	GUncertain significance
Select item 815647	GRCh37/hg19 14q21.1(chr14:41904642-42211322)x1	LRFN5	Copy number loss	not provided	GUncertain significance
Select item 815639	GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1	CLEC14A, FBXO33 +15 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688946	GRCh37/hg19 14q21.1(chr14:42154137-42280303)x1	LRFN5	Copy number loss	not provided	GUncertain significance
Select item 687926	GRCh37/hg19 14q21.1(chr14:41994597-42114386)x3	LRFN5	Copy number gain	not provided	GUncertain significance
Select item 686591	GRCh37/hg19 14q21.1(chr14:42099521-42470599)x1	LRFN5	Copy number loss	not provided	GUncertain significance
Select item 685676	GRCh37/hg19 14q21.1(chr14:42196974-42284519)x1	LRFN5	Copy number loss	not provided	GUncertain significance
Select item 685335	GRCh37/hg19 14q21.1(chr14:41982928-42117716)x3	LRFN5	Copy number gain	not provided	GUncertain significance
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 564084	GRCh37/hg19 14q21.1(chr14:42271196-42294097)x1	LRFN5	Copy number loss	not provided	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 74