ClinVar for Gene (Select 55194) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090794	NM_001304762.2(EVA1B):c.49G>A (p.Ala17Thr)	EVA1B, SH3D21 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090793	NM_001304762.2(EVA1B):c.487C>T (p.His163Tyr)	EVA1B, SH3D21 (H163Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090792	NM_001304762.2(EVA1B):c.443C>T (p.Thr148Met)	EVA1B, SH3D21 (T148M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2529133	NM_001304762.2(EVA1B):c.383G>C (p.Arg128Pro)	EVA1B, SH3D21 (R128P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508839	NM_001304762.2(EVA1B):c.272C>T (p.Pro91Leu)	EVA1B, SH3D21 (P91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460701	NM_001304762.2(EVA1B):c.263G>C (p.Arg88Pro)	EVA1B, SH3D21 (R88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402315	NM_001304762.2(EVA1B):c.246G>C (p.Glu82Asp)	EVA1B, SH3D21 (E82D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394455	NM_001304762.2(EVA1B):c.200A>C (p.Asp67Ala)	EVA1B, SH3D21 (D67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312530	NM_001304762.2(EVA1B):c.170C>T (p.Pro57Leu)	EVA1B, SH3D21 (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305027	NM_001304762.2(EVA1B):c.217C>G (p.Leu73Val)	EVA1B, SH3D21 (L73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273137	NM_001304762.2(EVA1B):c.413C>A (p.Thr138Asn)	EVA1B, SH3D21 (T138N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229747	NM_001304762.2(EVA1B):c.191A>C (p.Gln64Pro)	EVA1B, SH3D21 (Q64P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
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 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 more	Copy number gain	not provided	GUncertain significance
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	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24