ClinVar for Gene (Select 2662) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3099230	NM_004962.5(GDF10):c.899A>G (p.Asp300Gly)	GDF10 (D300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099229	NM_004962.5(GDF10):c.893T>G (p.Leu298Arg)	GDF10 (L298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099228	NM_004962.5(GDF10):c.667G>A (p.Ala223Thr)	GDF10 (A223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099227	NM_004962.5(GDF10):c.62T>C (p.Leu21Pro)	GDF10 (L21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099226	NM_004962.5(GDF10):c.491T>C (p.Leu164Pro)	GDF10 (L164P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099225	NM_004962.5(GDF10):c.374C>T (p.Ser125Leu)	GDF10 (S125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099224	NM_004962.5(GDF10):c.340G>A (p.Val114Met)	GDF10 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099223	NM_004962.5(GDF10):c.338C>T (p.Ala113Val)	GDF10 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099222	NM_004962.5(GDF10):c.283G>A (p.Gly95Arg)	GDF10 (G95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099221	NM_004962.5(GDF10):c.1382A>C (p.Asn461Thr)	GDF10 (N461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099219	NM_004962.5(GDF10):c.1089G>C (p.Gln363His)	GDF10 (Q363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2609287	NM_004962.5(GDF10):c.1349C>G (p.Ser450Cys)	GDF10 (S450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2548774	NM_004962.5(GDF10):c.989C>G (p.Ala330Gly)	GDF10 (A330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548773	NM_004962.5(GDF10):c.910C>G (p.Pro304Ala)	GDF10 (P304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546894	NM_004962.5(GDF10):c.1000C>G (p.Arg334Gly)	GDF10 (R334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545455	NM_004962.5(GDF10):c.40C>A (p.Pro14Thr)	GDF10 (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515595	NM_004962.5(GDF10):c.314G>C (p.Arg105Thr)	GDF10 (R105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2479303	NM_004962.5(GDF10):c.890C>G (p.Pro297Arg)	GDF10 (P297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463551	NM_004962.5(GDF10):c.1222G>T (p.Ala408Ser)	GDF10 (A408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462065	NM_004962.5(GDF10):c.1379G>A (p.Arg460Gln)	GDF10 (R460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461323	NM_004962.5(GDF10):c.694C>G (p.Pro232Ala)	GDF10 (P232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458136	NM_004962.5(GDF10):c.955C>T (p.His319Tyr)	GDF10 (H319Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367322	NM_004962.5(GDF10):c.862G>A (p.Val288Met)	GDF10 (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339629	NM_004962.5(GDF10):c.1387G>A (p.Val463Ile)	GDF10 (V463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321872	NM_004962.5(GDF10):c.668C>T (p.Ala223Val)	GDF10 (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313112	NM_004962.5(GDF10):c.974C>T (p.Pro325Leu)	GDF10 (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272008	NM_004962.5(GDF10):c.235A>G (p.Met79Val)	GDF10 (M79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267020	NM_004962.5(GDF10):c.193G>A (p.Ala65Thr)	GDF10 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241320	NM_004962.5(GDF10):c.221T>C (p.Met74Thr)	GDF10 (M74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236658	NM_004962.5(GDF10):c.627C>G (p.Ile209Met)	GDF10 (I209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235018	NM_004962.5(GDF10):c.775G>A (p.Val259Met)	GDF10 (V259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	ANXA8L1, AGAP9 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808107	GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3	AGAP10, AGAP9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	AGAP6, ANXA8 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340361	GRCh37/hg19 10q11.22(chr10:48301643-48769625)x1	GDF10, GDF2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GPathogenic
Select item 1072695	NC_000010.10:g.(?_48370533)_(48438710_?)del	ZNF488, GDF10 +2 more	Deletion	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 833109	NC_000010.10:g.(?_48370533)_(48429566_?)dup	GDF10, GDF2 +2 more	Duplication	not provided	GUncertain significance
Select item 832579	NC_000010.10:g.(?_48370533)_(48438710_?)dup	GDF10, GDF2 +2 more	Duplication	not provided	GUncertain significance
Select item 786156	NM_004962.5(GDF10):c.1045A>G (p.Met349Val)	GDF10 (M349V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768363	NM_004962.5(GDF10):c.912G>A (p.Pro304=)	GDF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689042	GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 685237	GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3	AGAP10, AGAP9 +29 more	Copy number gain	not provided	GPathogenic
Select item 625649	GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 625591	GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752)	AGAP9, ANXA8 +17 more	Copy number loss	not provided	GPathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563790	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 563789	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1	NCOA4, NPY4R +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 563788	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3	AGAP10, AGAP6 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 563787	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 563774	GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1	FAM25G, RBP3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442310	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441949	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441891	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1	AGAP10, AGAP6 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 441790	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 394170	GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 393739	GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3	AGAP10, AGAP4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253661	GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1	AGAP10, AGAP9 +29 more	Copy number loss	See cases	GPathogenic
Select item 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic
Select item 161627	NM_004962.5(GDF10):c.1217C>T (p.Ala406Val)	GDF10 (A406V)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign

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