3254[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 60121	GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	EIF2A, ERICH6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 3087850	NM_032025.5(EIF2A):c.4G>A (p.Ala2Thr)	LOC126806845, EIF2A (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398814	NM_032025.5(EIF2A):c.16C>G (p.Pro6Ala)	EIF2A, LOC126806845 (P6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550582	NM_032025.5(EIF2A):c.32G>A (p.Arg11Gln)	EIF2A (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087847	NM_032025.5(EIF2A):c.172A>G (p.Lys58Glu)	EIF2A (K58E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359648	NM_032025.5(EIF2A):c.235G>A (p.Val79Ile)	EIF2A (V79I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318434	NM_032025.5(EIF2A):c.343A>G (p.Lys115Glu)	EIF2A (K110E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087848	NM_032025.5(EIF2A):c.374A>G (p.Gln125Arg)	EIF2A (Q100R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222099	NM_032025.5(EIF2A):c.393G>T (p.Trp131Cys)	EIF2A (W126C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087849	NM_032025.5(EIF2A):c.406T>G (p.Ser136Ala)	EIF2A (S131A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351017	NM_032025.5(EIF2A):c.461A>G (p.Glu154Gly)	EIF2A (E149G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280621	NM_032025.5(EIF2A):c.545A>C (p.Tyr182Ser)	EIF2A (Y121S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3362619	NM_032025.5(EIF2A):c.650G>T (p.Ser217Ile)	EIF2A (S156I +3 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 33	GUncertain significance
Select item 3274935	NM_032025.5(EIF2A):c.654C>A (p.Phe218Leu)	EIF2A (F193L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528891	NM_032025.5(EIF2A):c.712A>G (p.Ile238Val)	EIF2A (I177V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309134	NM_032025.5(EIF2A):c.732C>A (p.Asp244Glu)	EIF2A (D219E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052231	NM_032025.5(EIF2A):c.824C>A (p.Pro275His)	EIF2A (P214H +4 more)	Single nucleotide variant (missense variant)	EIF2A-related disorder	GLikely benign
Select item 2270207	NM_032025.5(EIF2A):c.875A>G (p.Tyr292Cys)	EIF2A (Y287C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087851	NM_032025.5(EIF2A):c.908A>G (p.Asn303Ser)	EIF2A (N242S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087852	NM_032025.5(EIF2A):c.929T>C (p.Phe310Ser)	EIF2A (F285S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087853	NM_032025.5(EIF2A):c.947C>G (p.Pro316Arg)	EIF2A (P102R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335692	NM_032025.5(EIF2A):c.983T>C (p.Ile328Thr)	EIF2A (I303T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544753	NM_032025.5(EIF2A):c.1100C>T (p.Pro367Leu)	EIF2A (P153L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309750	NM_032025.5(EIF2A):c.1145G>A (p.Arg382Gln)	EIF2A (R168Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274933	NM_032025.5(EIF2A):c.1175A>T (p.Tyr392Phe)	EIF2A (Y367F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494318	NM_032025.5(EIF2A):c.1196A>C (p.Lys399Thr)	EIF2A (K338T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220936	NM_032025.5(EIF2A):c.1229A>C (p.Gln410Pro)	EIF2A (Q196P +4 more)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 3087846	NM_032025.5(EIF2A):c.1310A>G (p.Asn437Ser)	EIF2A (N223S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274932	NM_032025.5(EIF2A):c.1331C>T (p.Thr444Ile)	EIF2A (T230I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526820	NM_032025.5(EIF2A):c.1376C>G (p.Ser459Cys)	EIF2A (S398C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622172	NM_032025.5(EIF2A):c.1381T>G (p.Leu461Val)	EIF2A (L400V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459997	NM_032025.5(EIF2A):c.1473T>G (p.His491Gln)	EIF2A (H491Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309002	NM_032025.5(EIF2A):c.1486G>T (p.Ala496Ser)	EIF2A (A435S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337381	NM_032025.5(EIF2A):c.1518T>A (p.Ser506Arg)	EIF2A (S292R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404423	NM_032025.5(EIF2A):c.1663G>A (p.Ala555Thr)	EIF2A (A494T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367563	NM_032025.5(EIF2A):c.1712A>C (p.Glu571Ala)	EIF2A (E566A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	AGTR1, ANKUB1 +28 more	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
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 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 53