ClinVar for Gene (Select 57532) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3301428	NM_020772.3(NUFIP2):c.1316C>T (p.Ala439Val)	NUFIP2 (A439V)	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 3301426	NM_020772.3(NUFIP2):c.917G>A (p.Ser306Asn)	NUFIP2 (S306N)	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 3202866	NM_020772.3(NUFIP2):c.85C>G (p.Gln29Glu)	NUFIP2 (Q29E)	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 3202864	NM_020772.3(NUFIP2):c.21G>C (p.Gln7His)	NUFIP2 (Q7H)	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 3202861	NM_020772.3(NUFIP2):c.1858G>A (p.Glu620Lys)	NUFIP2 (E620K)	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 3202858	NM_020772.3(NUFIP2):c.1336A>G (p.Ile446Val)	NUFIP2 (I446V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2569434	NM_020772.3(NUFIP2):c.28C>T (p.Pro10Ser)	NUFIP2 (P10S)	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 2527356	NM_020772.3(NUFIP2):c.1277A>G (p.Asn426Ser)	NUFIP2 (N426S)	Single nucleotide variant (missense variant)	not specified	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 2491562	NM_020772.3(NUFIP2):c.1336A>C (p.Ile446Leu)	NUFIP2 (I446L)	Single nucleotide variant (missense variant)	not specified	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 2404647	NM_020772.3(NUFIP2):c.263C>A (p.Pro88Gln)	NUFIP2 (P88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2392136	NM_020772.3(NUFIP2):c.1235C>T (p.Ala412Val)	NUFIP2 (A412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2363395	NM_020772.3(NUFIP2):c.590A>G (p.Tyr197Cys)	NUFIP2 (Y197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2345265	NM_020772.3(NUFIP2):c.1319C>G (p.Ala440Gly)	NUFIP2 (A440G)	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 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 2301899	NM_020772.3(NUFIP2):c.1295G>A (p.Gly432Asp)	NUFIP2 (G432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2268970	NM_020772.3(NUFIP2):c.662C>T (p.Pro221Leu)	NUFIP2 (P221L)	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 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 794117	NM_020772.3(NUFIP2):c.1005C>A (p.Thr335=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790719	NM_020772.3(NUFIP2):c.44G>A (p.Ser15Asn)	NUFIP2 (S15N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 781274	NM_020772.3(NUFIP2):c.144C>T (p.His48=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 769917	NM_020772.3(NUFIP2):c.323T>C (p.Leu108Ser)	NUFIP2 (L108S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769916	NM_020772.3(NUFIP2):c.794A>G (p.Tyr265Cys)	NUFIP2 (Y265C)	Single nucleotide variant (missense 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 743094	NM_020772.3(NUFIP2):c.912A>G (p.Ser304=)	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 739200	NM_020772.3(NUFIP2):c.723G>A (p.Gln241=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735062	NM_020772.3(NUFIP2):c.1704G>A (p.Glu568=)	NUFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734363	NM_020772.3(NUFIP2):c.278-7C>T	NUFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734019	NM_020772.3(NUFIP2):c.354C>T (p.Asn118=)	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 713012	NM_020772.3(NUFIP2):c.1174A>G (p.Thr392Ala)	NUFIP2 (T392A)	Single nucleotide variant (missense 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 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
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64