ClinVar for Gene (Select 79712) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062632	GRCh37/hg19 2q22.3(chr2:144941525-145013748)x1	GTDC1	Copy number loss	not specified	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 2651392	NM_001376312.2(GTDC1):c.1308G>A (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2553240	NM_001376312.2(GTDC1):c.1178T>G (p.Leu393Trp)	GTDC1, LOC101928386 (L308W +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404264	NM_001376312.2(GTDC1):c.389T>C (p.Met130Thr)	GTDC1 (M130T +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2390926	NM_001376312.2(GTDC1):c.37T>A (p.Ser13Thr)	GTDC1 (S13T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2384948	NM_001376312.2(GTDC1):c.461G>A (p.Ser154Asn)	GTDC1 (S122N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2370448	NM_001376312.2(GTDC1):c.1195T>C (p.Phe399Leu)	GTDC1, LOC101928386 (F367L +8 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2367846	NM_001376312.2(GTDC1):c.127C>T (p.Arg43Trp)	GTDC1 (R43W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2355311	NM_001376312.2(GTDC1):c.1199C>G (p.Pro400Arg)	GTDC1, LOC101928386 (P282R +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334930	NM_001376312.2(GTDC1):c.469A>G (p.Arg157Gly)	GTDC1 (R28G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334212	NM_001376312.2(GTDC1):c.1166G>C (p.Cys389Ser)	LOC101928386, GTDC1 (C237S +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328291	NM_001376312.2(GTDC1):c.436G>A (p.Asp146Asn)	GTDC1 (D146N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323490	NM_001376312.2(GTDC1):c.962G>T (p.Gly321Val)	GTDC1 (G320V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317051	NM_001376312.2(GTDC1):c.812G>A (p.Cys271Tyr)	GTDC1 (C142Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2297712	NM_001376312.2(GTDC1):c.1202C>T (p.Ala401Val)	GTDC1, LOC101928386 (A450V +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2212290	NM_001376312.2(GTDC1):c.86T>A (p.Val29Asp)	GTDC1 (V29D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1801735	NM_001376312.2(GTDC1):c.371T>G (p.Phe124Cys)	GTDC1 (F124C +1 more)	Single nucleotide variant (missense variant +2 more)	Myoepithelial tumor	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 1340099	GRCh37/hg19 2q22.3(chr2:144989478-145160083)x3	GTDC1, ZEB2	Copy number gain	not provided	GUncertain significance
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 775760	NM_001376312.2(GTDC1):c.488T>C (p.Ile163Thr)	GTDC1 (I131T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 727232	NM_001376312.2(GTDC1):c.1308G>T (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 712902	NM_001376312.2(GTDC1):c.1307C>T (p.Pro436Leu)	GTDC1, LOC101928386 (P318L +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 562605	GRCh37/hg19 2q22.3(chr2:145039778-145664032)x3	ZEB2, GTDC1	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 441877	GRCh37/hg19 2q22.3(chr2:144796786-145564689)x1	GTDC1, ZEB2	Copy number loss	See cases	GPathogenic
Select item 403691	Single allele	GTDC1, KYNU +7 more	Duplication	MBD5 associated neurodevelopmental disorder	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 149932	GRCh38/hg38 2q22.3(chr2:144213114-144668146)x1	GTDC1, LINC01412 +15 more	Copy number loss	See cases	GPathogenic
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 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60215	GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1	GTDC1, LOC110120671 +10 more	Copy number loss	See cases	GPathogenic
Select item 60214	GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1	GTDC1, LINC01412 +13 more	Copy number loss	See cases	GPathogenic
Select item 60213	GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1	GTDC1, LOC101928386 +12 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 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	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 4765	NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del	GTDC1, LINC01412 +15 more	Deletion	Mowat-Wilson syndrome	GPathogenic

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Links from Gene

Items: 53