ClinVar for Gene (Select 2981) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283149	NM_007102.3(GUCA2B):c.163C>T (p.Pro55Ser)	GUCA2B (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103254	NM_007102.3(GUCA2B):c.196G>A (p.Val66Met)	GUCA2B (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103253	NM_007102.3(GUCA2B):c.13G>A (p.Ala5Thr)	GUCA2B (A5T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103252	NM_007102.3(GUCA2B):c.103C>T (p.Arg35Trp)	GUCA2B (R35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2369704	NM_007102.3(GUCA2B):c.88C>A (p.Gln30Lys)	GUCA2B (Q30K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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
Select item 242842	GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	RIMKLA, FOXO6 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic