ClinVar for Gene (Select 3726) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287281	NM_002229.3(JUNB):c.482C>T (p.Ala161Val)	HOOK2, JUNB +1 more (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287280	NM_002229.3(JUNB):c.164C>A (p.Ala55Asp)	HOOK2, JUNB (A55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287279	NM_002229.3(JUNB):c.505C>T (p.Pro169Ser)	HOOK2, JUNB +1 more (P169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287278	NM_002229.3(JUNB):c.481G>A (p.Ala161Thr)	HOOK2, JUNB +1 more (A161T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287277	NM_002229.3(JUNB):c.493C>G (p.Pro165Ala)	HOOK2, JUNB +1 more (P165A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287276	NM_002229.3(JUNB):c.661C>T (p.Pro221Ser)	JUNB (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3112560	NM_002229.3(JUNB):c.26T>C (p.Phe9Ser)	HOOK2, JUNB +1 more (F9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112559	NM_002229.3(JUNB):c.238C>T (p.Leu80Phe)	HOOK2, JUNB (L80F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2622294	NM_002229.3(JUNB):c.508G>A (p.Gly170Arg)	HOOK2, JUNB +1 more (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547032	NM_002229.3(JUNB):c.454G>T (p.Val152Leu)	HOOK2, JUNB +1 more (V152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529796	NM_002229.3(JUNB):c.39C>A (p.Asp13Glu)	HOOK2, JUNB (D13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2378182	NM_002229.3(JUNB):c.200G>C (p.Ser67Thr)	HOOK2, JUNB (S67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296704	NM_002229.3(JUNB):c.679C>T (p.Pro227Ser)	JUNB (P227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291776	NM_002229.3(JUNB):c.985A>C (p.Met329Leu)	JUNB (M329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 37