3704[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2411485	NM_004468.5(FHL3):c.794C>T (p.Pro265Leu)	FHL3 (P265L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638683	NM_004468.5(FHL3):c.789C>T (p.Phe263=)	FHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569626	NM_004468.5(FHL3):c.770C>G (p.Ser257Cys)	FHL3 (S257C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255628	NM_004468.5(FHL3):c.764C>G (p.Ser255Cys)	FHL3 (S147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095095	NM_004468.5(FHL3):c.754G>A (p.Ala252Thr)	FHL3 (A144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095094	NM_004468.5(FHL3):c.724C>G (p.Arg242Gly)	FHL3 (R242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095093	NM_004468.5(FHL3):c.652G>C (p.Ala218Pro)	FHL3 (A218P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206937	NM_004468.5(FHL3):c.552A>T (p.Glu184Asp)	FHL3 (E184D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297658	NM_004468.5(FHL3):c.513G>C (p.Gln171His)	FHL3 (Q63H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213207	NM_004468.5(FHL3):c.493T>G (p.Cys165Gly)	FHL3 (C165G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278825	NM_004468.5(FHL3):c.487G>A (p.Ala163Thr)	FHL3 (A163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278826	NM_004468.5(FHL3):c.482G>A (p.Arg161His)	FHL3 (R53H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638684	NM_004468.5(FHL3):c.438T>A (p.Gly146=)	FHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550816	NM_004468.5(FHL3):c.437G>T (p.Gly146Val)	FHL3 (G146V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095092	NM_004468.5(FHL3):c.416G>A (p.Arg139His)	FHL3 (R31H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611015	NM_004468.5(FHL3):c.406C>G (p.Leu136Val)	FHL3 (L136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507873	NM_004468.5(FHL3):c.362C>T (p.Thr121Ile)	FHL3 (T13I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244657	NM_004468.5(FHL3):c.349T>C (p.Tyr117His)	FHL3 (Y117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493311	NM_004468.5(FHL3):c.338G>A (p.Arg113Gln)	FHL3 (R5Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638685	NM_004468.5(FHL3):c.309T>C (p.Ala103=)	FHL3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 783283	NM_004468.5(FHL3):c.307G>A (p.Ala103Thr)	FHL3 (A103T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3278824	NM_004468.5(FHL3):c.218G>A (p.Arg73His)	FHL3 (R73H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375626	NM_004468.5(FHL3):c.217C>T (p.Arg73Cys)	FHL3 (R73C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3095091	NM_004468.5(FHL3):c.136C>T (p.Leu46Phe)	FHL3 (L46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095096	NM_004468.5(FHL3):c.97G>A (p.Asp33Asn)	FHL3 (D33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246632	NM_004468.5(FHL3):c.47G>T (p.Gly16Val)	FHL3 (G16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206944	NM_004468.5(FHL3):c.34G>A (p.Glu12Lys)	FHL3 (E12K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483765	NM_004468.5(FHL3):c.32A>G (p.Asn11Ser)	FHL3 (N11S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 37