ClinVar for Gene (Select 114793) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095858	NM_052905.4(FMNL2):c.572G>A (p.Arg191His)	FMNL2 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095857	NM_052905.4(FMNL2):c.2251C>T (p.Leu751Phe)	FMNL2 (L751F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095856	NM_052905.4(FMNL2):c.2231A>G (p.Asn744Ser)	FMNL2 (N744S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095855	NM_052905.4(FMNL2):c.1760T>C (p.Leu587Ser)	FMNL2 (L587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095854	NM_052905.4(FMNL2):c.1708C>T (p.Pro570Ser)	FMNL2 (P570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095853	NM_052905.4(FMNL2):c.1700C>T (p.Pro567Leu)	FMNL2 (P567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095852	NM_052905.4(FMNL2):c.1502C>T (p.Thr501Ile)	FMNL2, LOC126806374 (T501I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 3060523	NM_052905.4(FMNL2):c.1673_1674insACC (p.Pro573_Leu574insPro)	FMNL2	Insertion (inframe insertion)	FMNL2-related disorder	GBenign
Select item 2776124	NM_052905.4(FMNL2):c.360-10_360-9insGTTTTTTTTTC	FMNL2	Insertion (intron variant)	not provided	GLikely benign
Select item 2651439	NM_052905.4(FMNL2):c.2928G>T (p.Arg976=)	FMNL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631440	NM_052905.4(FMNL2):c.791C>G (p.Ala264Gly)	FMNL2 (A264G)	Single nucleotide variant (missense variant)	FMNL2-related disorder	GUncertain significance
Select item 2555730	NM_052905.4(FMNL2):c.1260T>G (p.Ile420Met)	FMNL2 (I420M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555147	NM_052905.4(FMNL2):c.2272C>T (p.Pro758Ser)	FMNL2 (P758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491792	NM_052905.4(FMNL2):c.788A>C (p.Lys263Thr)	FMNL2 (K263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489372	NM_052905.4(FMNL2):c.2686C>T (p.Leu896Phe)	FMNL2 (L896F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471944	NM_052905.4(FMNL2):c.2707G>A (p.Val903Ile)	FMNL2 (V903I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402713	NM_052905.4(FMNL2):c.3086T>C (p.Ile1029Thr)	FMNL2 (I1029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384509	NM_052905.4(FMNL2):c.1811C>T (p.Thr604Ile)	FMNL2 (T604I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367997	NM_052905.4(FMNL2):c.439G>T (p.Val147Leu)	FMNL2 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361820	NM_052905.4(FMNL2):c.896G>A (p.Arg299His)	FMNL2 (R299H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2338974	NM_052905.4(FMNL2):c.1633A>G (p.Asn545Asp)	FMNL2 (N545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330088	NM_052905.4(FMNL2):c.774G>T (p.Lys258Asn)	FMNL2 (K258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296175	NM_052905.4(FMNL2):c.506G>T (p.Ser169Ile)	FMNL2 (S169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284466	NM_052905.4(FMNL2):c.1919A>G (p.Asn640Ser)	FMNL2 (N640S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283484	NM_052905.4(FMNL2):c.2809C>A (p.Leu937Met)	FMNL2 (L937M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277262	NM_052905.4(FMNL2):c.3104G>A (p.Arg1035Gln)	FMNL2 (R1035Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260449	NM_052905.4(FMNL2):c.1474G>A (p.Ala492Thr)	FMNL2, LOC126806374 (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259683	NM_052905.4(FMNL2):c.2761G>C (p.Asp921His)	FMNL2 (D921H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242564	NM_052905.4(FMNL2):c.895C>T (p.Arg299Cys)	FMNL2 (R299C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239170	NM_052905.4(FMNL2):c.3256A>G (p.Asn1086Asp)	FMNL2 (N1086D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233420	NM_052905.4(FMNL2):c.817G>A (p.Val273Ile)	FMNL2 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214041	NM_052905.4(FMNL2):c.1514G>A (p.Gly505Glu)	FMNL2, LOC126806374 (G505E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210837	NM_052905.4(FMNL2):c.2172C>A (p.Asp724Glu)	FMNL2 (D724E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526376	NM_052905.4(FMNL2):c.120T>C (p.Asn40=)	FMNL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1340952	GRCh37/hg19 2q23.3(chr2:152938421-153291627)x3	CACNB4, FMNL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340817	GRCh37/hg19 2q23.3(chr2:153211493-153511384)x3	FMNL2, PRPF40A	Copy number gain	not provided	GUncertain significance
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 1300016	NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu)	FMNL2 (F1077L)	Single nucleotide variant (missense variant)	Mycotic Aneurysm, Intracranial	GUncertain significance
Select item 997783	NM_052905.4(FMNL2):c.407T>C (p.Leu136Pro)	FMNL2 (L136P)	Single nucleotide variant (missense variant)	Crohn disease	GLikely pathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 791523	NM_052905.4(FMNL2):c.328C>G (p.Leu110Val)	FMNL2 (L110V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785013	NM_052905.4(FMNL2):c.1055A>G (p.Tyr352Cys)	FMNL2 (Y352C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776344	NM_052905.4(FMNL2):c.1618C>T (p.Pro540Ser)	FMNL2, LOC126806374 (P540S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 757631	NM_052905.4(FMNL2):c.596+8C>G	FMNL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743100	NM_052905.4(FMNL2):c.2163T>C (p.His721=)	FMNL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732924	NM_052905.4(FMNL2):c.1838-8G>A	FMNL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 587435	NM_052905.4(FMNL2):c.1673_1674insA (p.Pro560fs)	FMNL2 (P560fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 59