(2[CHR] AND 1:144690824[chrpos37] AND 144213941:2000000000[chrpos37]) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	LOC129934870, LOC129934871 +75 more	Copy number loss	See cases	GPathogenic
Select item 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	See cases	GPathogenic
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 150244	GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1	ARHGAP15, ARHGAP15-AS1 +43 more	Copy number loss	See cases	GPathogenic
Select item 155456	GRCh38/hg38 2q22.2-22.3(chr2:143328755-143590337)x1	ARHGAP15, LOC110120740	Copy number loss	See cases	GUncertain significance
Select item 2511726	NM_018460.4(ARHGAP15):c.749G>A (p.Arg250Gln)	ARHGAP15 (R250Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408020	NM_018460.4(ARHGAP15):c.752T>C (p.Val251Ala)	ARHGAP15 (V251A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339383	NM_018460.4(ARHGAP15):c.856G>A (p.Val286Met)	ARHGAP15 (V286M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283530	NM_018460.4(ARHGAP15):c.1048G>A (p.Val350Ile)	ARHGAP15 (V350I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386885	NM_018460.4(ARHGAP15):c.1159A>G (p.Arg387Gly)	ARHGAP15, ARHGAP15-AS1 (R387G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351380	NM_018460.4(ARHGAP15):c.1199C>T (p.Pro400Leu)	ARHGAP15-AS1, ARHGAP15 (P400L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528081	NM_018460.4(ARHGAP15):c.1225C>T (p.Leu409Phe)	ARHGAP15, ARHGAP15-AS1 (L409F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216091	NM_018460.4(ARHGAP15):c.1280C>T (p.Thr427Met)	ARHGAP15, ARHGAP15-AS1 (T427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371802	NM_018460.4(ARHGAP15):c.1319G>A (p.Arg440Gln)	ARHGAP15-AS1, ARHGAP15 (R440Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248739	NM_018460.4(ARHGAP15):c.1354A>G (p.Met452Val)	ARHGAP15, ARHGAP15-AS1 (M452V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258437	NM_018460.4(ARHGAP15):c.1364A>G (p.Gln455Arg)	ARHGAP15-AS1, ARHGAP15 (Q455R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597142	NM_018460.4(ARHGAP15):c.1372A>G (p.Ile458Val)	ARHGAP15, ARHGAP15-AS1 (I458V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 60213	GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1	GTDC1, LOC101928386 +12 more	Copy number loss	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 34454	GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3	GTDC1, LINC01412 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024617	GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	ARHGAP15, GTDC1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1808969	GRCh37/hg19 2q22.3(chr2:144192888-144248006)x1	ARHGAP15	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1526903	GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	ARHGAP15, GTDC1 +5 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	RIF1, RND3 +28 more	Copy number gain	Strabismus +2 more	GPathogenic
Select item 974580	Single allele	ZEB2, HNMT +7 more	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 689256	GRCh37/hg19 2q22.2-22.3(chr2:143192287-144325954)x3	ARHGAP15, KYNU	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 524184	t(2;7)(p13;q32)dn	EML6	Translocation	not specified	GUncertain significance
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 403691	Single allele	GTDC1, KYNU +7 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 426094	t(2;14)(q36.1;q12)	WDFY1, FOXG1	Translocation	Rett syndrome, congenital variant	GPathogenic
Select item 375673	NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A	CLDN14, CLDN14-AS1 +1 more (V85D +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome	GPathogenic

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Items: 40