ClinVar for Gene (Select 10946) - ClinVar

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

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317822	NM_006802.4(SF3A3):c.8C>T (p.Thr3Ile)	SF3A3 (T3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317821	NM_006802.4(SF3A3):c.698C>G (p.Thr233Arg)	SF3A3 (T233R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160811	NM_006802.4(SF3A3):c.666G>T (p.Glu222Asp)	SF3A3 (E169D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160810	NM_006802.4(SF3A3):c.350G>A (p.Arg117Gln)	SF3A3 (R117Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160809	NM_006802.4(SF3A3):c.304A>C (p.Ile102Leu)	SF3A3 (I102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160808	NM_006802.4(SF3A3):c.218A>G (p.Asn73Ser)	SF3A3 (N73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2612295	NM_006802.4(SF3A3):c.1003G>A (p.Gly335Arg)	SF3A3 (G282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534143	NM_006802.4(SF3A3):c.173G>C (p.Arg58Thr)	SF3A3 (R58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474239	NM_006802.4(SF3A3):c.1025A>G (p.His342Arg)	SF3A3 (H342R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370153	NM_006802.4(SF3A3):c.933G>C (p.Lys311Asn)	SF3A3 (K258N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305952	NM_006802.4(SF3A3):c.416A>G (p.Tyr139Cys)	SF3A3 (Y86C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283705	NM_006802.4(SF3A3):c.190A>G (p.Lys64Glu)	SF3A3 (K64E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278691	NM_006802.4(SF3A3):c.431A>G (p.Asp144Gly)	SF3A3 (D144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227764	NM_006802.4(SF3A3):c.713C>A (p.Thr238Asn)	SF3A3 (T185N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216662	NM_006802.4(SF3A3):c.113A>G (p.Asn38Ser)	SF3A3 (N38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 24