13506[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 3094542	NM_018008.4(FEZF2):c.1351A>G (p.Lys451Glu)	FEZF2 (K451E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475752	NM_018008.4(FEZF2):c.1324A>G (p.Ser442Gly)	FEZF2 (S442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094541	NM_018008.4(FEZF2):c.1258G>A (p.Ala420Thr)	FEZF2 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342746	NM_018008.4(FEZF2):c.1257C>A (p.Cys419Ter)	FEZF2 (C419*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252468	NM_018008.4(FEZF2):c.1171T>G (p.Cys391Gly)	FEZF2 (C391G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342552	NM_018008.4(FEZF2):c.1110del (p.His371fs)	FEZF2 (H371fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3042169	NM_018008.4(FEZF2):c.1090G>A (p.Glu364Lys)	FEZF2 (E364K)	Single nucleotide variant (missense variant)	FEZF2-related disorder	GUncertain significance
Select item 3345055	NM_018008.4(FEZF2):c.1077G>C (p.Lys359Asn)	FEZF2 (K359N)	Single nucleotide variant (missense variant)	FEZF2-related disorder	GUncertain significance
Select item 3340168	NM_018008.4(FEZF2):c.1030C>T (p.Arg344Cys)	FEZF2 (R344C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342755	NM_018008.4(FEZF2):c.1020dup (p.Ala341fs)	FEZF2 (A341fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3094540	NM_018008.4(FEZF2):c.1007A>G (p.Asn336Ser)	FEZF2 (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033115	NM_018008.4(FEZF2):c.944G>T (p.Arg315Leu)	FEZF2 (R315L)	Single nucleotide variant (missense variant)	FEZF2-related disorder	GUncertain significance
Select item 3342524	NM_018008.4(FEZF2):c.853-2A>T	FEZF2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2617268	NM_018008.4(FEZF2):c.811G>C (p.Asp271His)	FEZF2 (D271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094546	NM_018008.4(FEZF2):c.751G>T (p.Ala251Ser)	FEZF2 (A251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384015	NM_018008.4(FEZF2):c.668C>T (p.Ala223Val)	FEZF2 (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510368	NM_018008.4(FEZF2):c.493G>A (p.Ala165Thr)	FEZF2 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233290	NM_018008.4(FEZF2):c.359T>G (p.Val120Gly)	FEZF2 (V120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653934	NM_018008.4(FEZF2):c.352dup (p.Ala118fs)	FEZF2 (A118fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2211220	NM_018008.4(FEZF2):c.353C>G (p.Ala118Gly)	FEZF2 (A118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509399	NM_018008.4(FEZF2):c.352G>A (p.Ala118Thr)	FEZF2 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541084	NM_018008.4(FEZF2):c.350G>A (p.Gly117Glu)	FEZF2 (G117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653935	NM_018008.4(FEZF2):c.333CGG[7] (p.Gly117_Ala118insGlyGly)	FEZF2	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 717184	NM_018008.4(FEZF2):c.345C>G (p.Gly115=)	FEZF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045162	NM_018008.4(FEZF2):c.330_344del (p.Gly113_Gly117del)	FEZF2	Deletion	FEZF2-related disorder	GBenign
Select item 791932	NM_018008.4(FEZF2):c.315_323dup (p.Gly115_Gly117dup)	FEZF2	Duplication (inframe_insertion)	not provided	GBenign
Select item 3094545	NM_018008.4(FEZF2):c.280C>T (p.Leu94Phe)	FEZF2 (L94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094544	NM_018008.4(FEZF2):c.251C>A (p.Pro84Gln)	FEZF2 (P84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689064	NM_018008.4(FEZF2):c.250C>A (p.Pro84Thr)	FEZF2 (P84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3278557	NM_018008.4(FEZF2):c.164C>A (p.Ala55Glu)	FEZF2 (A55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094543	NM_018008.4(FEZF2):c.154G>A (p.Ala52Thr)	FEZF2 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062725	GRCh37/hg19 3p14.2(chr3:62215074-62390218)x1	CADPS, CEP15 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 814450	GRCh37/hg19 3p14.2-14.1(chr3:62206958-63944889)x3	C3orf14, ATXN7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 685135	GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1	ATXN7, C3orf14 +7 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442399	GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1	CADPS, CEP15 +5 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Items: 45