17106[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2344861	NM_153274.3(BEST4):c.1318C>G (p.Pro440Ala)	BEST4, LOC129930423 (P440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290791	NM_153274.3(BEST4):c.1213C>A (p.Pro405Thr)	BEST4, LOC129930423 (P405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474436	NM_153274.3(BEST4):c.1174C>A (p.Leu392Met)	BEST4, LOC129930423 (L392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524063	NM_153274.3(BEST4):c.1159G>A (p.Asp387Asn)	BEST4, LOC129930423 (D387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615670	NM_153274.3(BEST4):c.1103C>A (p.Ala368Asp)	BEST4 (A368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362082	NM_153274.3(BEST4):c.1082C>T (p.Pro361Leu)	BEST4 (P361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257356	NM_153274.3(BEST4):c.983G>A (p.Arg328His)	BEST4 (R328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285692	NM_153274.3(BEST4):c.477C>G (p.Asp159Glu)	BEST4 (D159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480472	NM_153274.3(BEST4):c.469G>A (p.Val157Met)	BEST4 (V157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381999	NM_153274.3(BEST4):c.425C>T (p.Ser142Leu)	BEST4 (S142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535903	NM_153274.3(BEST4):c.382C>G (p.Leu128Val)	BEST4 (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300878	NM_153274.3(BEST4):c.364C>G (p.Arg122Gly)	BEST4 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370847	NM_153274.3(BEST4):c.349G>A (p.Val117Met)	BEST4 (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775547	NM_153274.3(BEST4):c.165C>G (p.Thr55=)	BEST4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 24