340719[geneid] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 1268518	NM_199461.4(NANOS1):c.-51G>C	NANOS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2277088	NM_199461.4(NANOS1):c.19G>T (p.Ala7Ser)	NANOS1 (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313842	NM_199461.4(NANOS1):c.38G>A (p.Arg13His)	NANOS1 (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320034	NM_199461.4(NANOS1):c.41G>A (p.Gly14Asp)	NANOS1 (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298415	NM_199461.4(NANOS1):c.49C>A (p.Pro17Thr)	NANOS1 (P17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520451	NM_199461.4(NANOS1):c.52C>G (p.Pro18Ala)	NANOS1 (P18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350957	NM_199461.4(NANOS1):c.53C>T (p.Pro18Leu)	NANOS1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298414	NM_199461.4(NANOS1):c.94C>G (p.Pro32Ala)	NANOS1 (P32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174687	NM_199461.4(NANOS1):c.95C>T (p.Pro32Leu)	NANOS1 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515391	NM_199461.4(NANOS1):c.95C>A (p.Pro32Gln)	NANOS1 (P32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233504	NM_199461.4(NANOS1):c.100C>A (p.Pro34Thr)	NANOS1 (P34T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2388830	NM_199461.4(NANOS1):c.190G>A (p.Gly64Ser)	LOC130004821, NANOS1 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534302	NM_199461.4(NANOS1):c.209A>G (p.Asn70Ser)	LOC130004821, NANOS1 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476716	NM_199461.4(NANOS1):c.224C>T (p.Ser75Phe)	LOC130004821, NANOS1 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 65390	NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del)	LOC130004821, NANOS1 (S83del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 768395	NM_199461.4(NANOS1):c.235T>A (p.Ser79Thr)	LOC130004821, NANOS1 (S79T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2336724	NM_199461.4(NANOS1):c.242C>T (p.Ser81Leu)	LOC130004821, NANOS1 (S81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225028	NM_199461.4(NANOS1):c.262C>A (p.His88Asn)	LOC130004821, NANOS1 (H88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398630	NM_199461.4(NANOS1):c.263A>C (p.His88Pro)	LOC130004821, NANOS1 (H88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534303	NM_199461.4(NANOS1):c.265A>G (p.Thr89Ala)	LOC130004821, NANOS1 (T89A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174609	NM_199461.4(NANOS1):c.274G>A (p.Gly92Arg)	LOC130004821, NANOS1 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495326	NM_199461.4(NANOS1):c.281G>C (p.Gly94Ala)	LOC130004821, NANOS1 (G94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498471	NM_199461.4(NANOS1):c.283GCGCTGGGGCCG[1] (p.95ALGP[1])	LOC130004821, NANOS1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2386887	NM_199461.4(NANOS1):c.353C>A (p.Ser118Tyr)	NANOS1 (S118Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569407	NM_199461.4(NANOS1):c.373A>G (p.Ser125Gly)	NANOS1 (S125G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569408	NM_199461.4(NANOS1):c.376G>A (p.Ala126Thr)	NANOS1 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534304	NM_199461.4(NANOS1):c.410G>A (p.Gly137Asp)	NANOS1 (G137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582882	NM_199461.4(NANOS1):c.413C>G (p.Pro138Arg)	NANOS1 (P138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534305	NM_199461.4(NANOS1):c.415G>T (p.Ala139Ser)	NANOS1 (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1012559	NM_199461.4(NANOS1):c.483_512del (p.Leu162_Ala171del)	NANOS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3049116	NM_199461.4(NANOS1):c.502GCC[7] (p.Ala173_Thr174insAla)	NANOS1	Microsatellite	NANOS1-related disorder	GBenign
Select item 776547	NM_199461.4(NANOS1):c.502GCC[8] (p.Ala172_Ala173dup)	NANOS1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 3042603	NM_199461.4(NANOS1):c.502GCC[3] (p.Ala171_Ala173del)	NANOS1	Microsatellite	NANOS1-related disorder	GLikely benign
Select item 65391	NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del)	NANOS1 (A173del)	Microsatellite (inframe_deletion)	Spermatogenic failure 12	GPathogenic
Select item 2323626	NM_199461.4(NANOS1):c.518C>T (p.Ala173Val)	NANOS1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459898	NM_199461.4(NANOS1):c.520A>G (p.Thr174Ala)	NANOS1 (T174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402597	NM_199461.4(NANOS1):c.556G>C (p.Ala186Pro)	NANOS1 (A186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617015	NM_199461.4(NANOS1):c.562G>A (p.Ala188Thr)	NANOS1 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621431	NM_199461.4(NANOS1):c.580C>T (p.Arg194Trp)	NANOS1 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476673	NM_199461.4(NANOS1):c.613C>G (p.Arg205Gly)	NANOS1 (R205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174654	NM_199461.4(NANOS1):c.635A>C (p.Gln212Pro)	NANOS1 (Q212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273664	NM_199461.4(NANOS1):c.657C>G (p.Asn219Lys)	NANOS1 (N219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174661	NM_199461.4(NANOS1):c.664G>A (p.Glu222Lys)	NANOS1 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534306	NM_199461.4(NANOS1):c.670A>G (p.Met224Val)	NANOS1 (M224V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510620	NM_199461.4(NANOS1):c.674C>G (p.Ala225Gly)	NANOS1 (A225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534307	NM_199461.4(NANOS1):c.694C>T (p.Leu232Phe)	LOC130004822, NANOS1 (L232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242654	NM_199461.4(NANOS1):c.737G>A (p.Arg246His)	LOC130004822, NANOS1 (R246H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 768396	NM_199461.4(NANOS1):c.747T>C (p.Cys249=)	LOC130004822, NANOS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2285316	NM_199461.4(NANOS1):c.776C>T (p.Ala259Val)	LOC130004822, NANOS1 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174678	NM_199461.4(NANOS1):c.797C>G (p.Pro266Arg)	LOC130004822, NANOS1 (P266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484674	NM_199461.4(NANOS1):c.808G>A (p.Val270Met)	LOC130004822, NANOS1 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242653	NM_199461.4(NANOS1):c.826_827delinsTA (p.Arg276Tyr)	LOC130004822, NANOS1 (R276Y)	Indel (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 65392	NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]	LOC130004822, NANOS1 (R276Y +1 more)	Indel (missense variant)	Spermatogenic failure 12	GPathogenic
Select item 744589	NM_199461.4(NANOS1):c.846C>T (p.Ala282=)	LOC130004822, NANOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 685600	GRCh37/hg19 10q26.11(chr10:120583488-121118862)x3	DENND10, EIF3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
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 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 87