ClinVar for Gene (Select 10946) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ARTN, ATP6V0B +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	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 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)	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
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22