NUFIP2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3202861	NM_020772.3(NUFIP2):c.1858G>A (p.Glu620Lys)	NUFIP2 (E620K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531220	NM_020772.3(NUFIP2):c.1856A>G (p.Tyr619Cys)	NUFIP2 (Y619C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309320	NM_020772.3(NUFIP2):c.1843C>A (p.Leu615Ile)	NUFIP2 (L615I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307820	NM_020772.3(NUFIP2):c.1838T>G (p.Val613Gly)	NUFIP2 (V613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343037	NM_020772.3(NUFIP2):c.1758T>G (p.Ser586Arg)	NUFIP2 (S586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735062	NM_020772.3(NUFIP2):c.1704G>A (p.Glu568=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708556	NM_020772.3(NUFIP2):c.1662A>G (p.Ser554=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750301	NM_020772.3(NUFIP2):c.1630T>C (p.Leu544=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742122	NM_020772.3(NUFIP2):c.1539T>C (p.Asn513=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726560	NM_020772.3(NUFIP2):c.1518G>A (p.Gln506=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282578	NM_020772.3(NUFIP2):c.1421A>G (p.Tyr474Cys)	NUFIP2 (Y474C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202858	NM_020772.3(NUFIP2):c.1336A>G (p.Ile446Val)	NUFIP2 (I446V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491562	NM_020772.3(NUFIP2):c.1336A>C (p.Ile446Leu)	NUFIP2 (I446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345265	NM_020772.3(NUFIP2):c.1319C>G (p.Ala440Gly)	NUFIP2 (A440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301428	NM_020772.3(NUFIP2):c.1316C>T (p.Ala439Val)	NUFIP2 (A439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301899	NM_020772.3(NUFIP2):c.1295G>A (p.Gly432Asp)	NUFIP2 (G432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527356	NM_020772.3(NUFIP2):c.1277A>G (p.Asn426Ser)	NUFIP2 (N426S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392136	NM_020772.3(NUFIP2):c.1235C>T (p.Ala412Val)	NUFIP2 (A412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301429	NM_020772.3(NUFIP2):c.1232C>A (p.Ser411Tyr)	NUFIP2 (S411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713012	NM_020772.3(NUFIP2):c.1174A>G (p.Thr392Ala)	NUFIP2 (T392A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2401155	NM_020772.3(NUFIP2):c.1115A>G (p.Asn372Ser)	NUFIP2 (N372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202856	NM_020772.3(NUFIP2):c.1108A>C (p.Ile370Leu)	NUFIP2 (I370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794117	NM_020772.3(NUFIP2):c.1005C>A (p.Thr335=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2518389	NM_020772.3(NUFIP2):c.976G>C (p.Ala326Pro)	NUFIP2 (A326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222349	NM_020772.3(NUFIP2):c.949G>T (p.Asp317Tyr)	NUFIP2 (D317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202867	NM_020772.3(NUFIP2):c.926G>A (p.Gly309Asp)	NUFIP2 (G309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301426	NM_020772.3(NUFIP2):c.917G>A (p.Ser306Asn)	NUFIP2 (S306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743094	NM_020772.3(NUFIP2):c.912A>G (p.Ser304=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361033	NM_020772.3(NUFIP2):c.907A>G (p.Ser303Gly)	NUFIP2 (S303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351344	NM_020772.3(NUFIP2):c.827C>T (p.Ser276Leu)	NUFIP2 (S276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787645	NM_020772.3(NUFIP2):c.826T>C (p.Ser276Pro)	NUFIP2 (S276P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769916	NM_020772.3(NUFIP2):c.794A>G (p.Tyr265Cys)	NUFIP2 (Y265C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739200	NM_020772.3(NUFIP2):c.723G>A (p.Gln241=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372186	NM_020772.3(NUFIP2):c.686A>G (p.Asn229Ser)	NUFIP2 (N229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268970	NM_020772.3(NUFIP2):c.662C>T (p.Pro221Leu)	NUFIP2 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774723	NM_020772.3(NUFIP2):c.610G>A (p.Gly204Ser)	NUFIP2 (G204S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2363395	NM_020772.3(NUFIP2):c.590A>G (p.Tyr197Cys)	NUFIP2 (Y197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202865	NM_020772.3(NUFIP2):c.541T>G (p.Ser181Ala)	NUFIP2 (S181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301427	NM_020772.3(NUFIP2):c.462C>G (p.Phe154Leu)	NUFIP2 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734019	NM_020772.3(NUFIP2):c.354C>T (p.Asn118=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769917	NM_020772.3(NUFIP2):c.323T>C (p.Leu108Ser)	NUFIP2 (L108S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734363	NM_020772.3(NUFIP2):c.278-7C>T	NUFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2404647	NM_020772.3(NUFIP2):c.263C>A (p.Pro88Gln)	NUFIP2 (P88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202863	NM_020772.3(NUFIP2):c.202G>A (p.Ala68Thr)	NUFIP2 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202860	NM_020772.3(NUFIP2):c.177G>T (p.Gln59His)	NUFIP2 (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202859	NM_020772.3(NUFIP2):c.169T>C (p.Tyr57His)	NUFIP2 (Y57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781274	NM_020772.3(NUFIP2):c.144C>T (p.His48=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3202866	NM_020772.3(NUFIP2):c.85C>G (p.Gln29Glu)	NUFIP2 (Q29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790719	NM_020772.3(NUFIP2):c.44G>A (p.Ser15Asn)	NUFIP2 (S15N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2569434	NM_020772.3(NUFIP2):c.28C>T (p.Pro10Ser)	NUFIP2 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202864	NM_020772.3(NUFIP2):c.21G>C (p.Gln7His)	NUFIP2 (Q7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1809121	GRCh37/hg19 17q11.2(chr17:27552278-27842559)x3	CRYBA1, NUFIP2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64