ClinVar for Gene (Select 9592) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108069	NM_004907.3(IER2):c.623C>T (p.Pro208Leu)	IER2 (P208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108068	NM_004907.3(IER2):c.490C>G (p.Pro164Ala)	IER2 (P164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108067	NM_004907.3(IER2):c.474T>G (p.Asp158Glu)	IER2 (D158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108066	NM_004907.3(IER2):c.367C>T (p.Arg123Cys)	IER2 (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108065	NM_004907.3(IER2):c.320C>T (p.Thr107Ile)	IER2 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108064	NM_004907.3(IER2):c.299A>G (p.Glu100Gly)	IER2 (E100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2615027	NM_004907.3(IER2):c.236C>T (p.Ser79Phe)	IER2 (S79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486040	NM_004907.3(IER2):c.637C>T (p.Leu213Phe)	IER2 (L213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423756	NC_000019.9:g.(?_13135448)_(13419362_?)dup	CACNA1A, IER2 +5 more	Duplication	Marshall-Smith syndrome +3 more	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2391571	NM_004907.3(IER2):c.118A>C (p.Met40Leu)	IER2 (M40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385719	NM_004907.3(IER2):c.35C>T (p.Thr12Ile)	IER2 (T12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379857	NM_004907.3(IER2):c.463G>A (p.Glu155Lys)	IER2 (E155K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350954	NM_004907.3(IER2):c.415A>C (p.Lys139Gln)	IER2 (K139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336264	NM_004907.3(IER2):c.295C>G (p.Gln99Glu)	IER2 (Q99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269107	NM_004907.3(IER2):c.320C>A (p.Thr107Asn)	IER2 (T107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257059	NM_004907.3(IER2):c.305C>T (p.Pro102Leu)	IER2 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Episodic ataxia type 2 +2 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 1003316	NC_000019.9:g.(?_13135448)_(13574132_?)dup	IER2, LYL1 +5 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 780535	NM_004907.3(IER2):c.571G>A (p.Ala191Thr)	IER2 (A191T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 473244	NC_000019.9:g.(?_13106632)_(13428155_?)del	STX10, TRMT1 +5 more	Deletion	Marshall-Smith syndrome +1 more	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 394960	GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3	CACNA1A, IER2 +5 more	Copy number gain	See cases	GLikely pathogenic
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 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 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 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
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 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 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 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	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: 43