ClinVar for Gene (Select 58512) - ClinVar

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Links from Gene

Items: 25

	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 2638642	NM_001080418.3(DLGAP3):c.2666A>G (p.Lys889Arg)	DLGAP3 (K889R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 806420	GRCh37/hg19 1p34.3(chr1:35321300-35944813)x1	SFPQ, ZMYM1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 796682	NM_001080418.3(DLGAP3):c.2658G>A (p.Val886=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786723	NM_001080418.3(DLGAP3):c.2292C>T (p.Pro764=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778796	NM_001080418.3(DLGAP3):c.918C>T (p.Gly306=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757628	NM_001080418.3(DLGAP3):c.254dup (p.Gly85_Ser86insTer)	DLGAP3	Duplication (frameshift variant)	not provided	GLikely benign
Select item 756641	NM_001080418.3(DLGAP3):c.1041C>T (p.Ala347=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739639	NM_001080418.3(DLGAP3):c.1881G>A (p.Arg627=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724007	NM_001080418.3(DLGAP3):c.1218C>T (p.Ser406=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 722226	NM_001080418.3(DLGAP3):c.133C>A (p.Pro45Thr)	DLGAP3 (P45T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722225	NM_001080418.3(DLGAP3):c.134C>A (p.Pro45His)	DLGAP3 (P45H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716659	NM_001080418.3(DLGAP3):c.2379C>T (p.Arg793=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709546	NM_001080418.3(DLGAP3):c.1002C>T (p.Thr334=)	DLGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 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 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 25