DSE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	LOC129997064, LOC129997065 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 59526	GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3	COL10A1, DSE +31 more	Copy number gain	See cases	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 745845	NM_003309.4(TSPYL1):c.1269G>A (p.Arg423=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416621	NM_003309.4(TSPYL1):c.1264C>T (p.Leu422=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773200	NM_003309.4(TSPYL1):c.1135A>G (p.Thr379Ala)	DSE, TSPYL1 (T379A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1573308	NM_003309.4(TSPYL1):c.1116C>T (p.Asp372=)	TSPYL1, DSE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718447	NM_003309.4(TSPYL1):c.1098C>A (p.Phe366Leu)	DSE, TSPYL1 (F366L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3050285	NM_003309.4(TSPYL1):c.1083T>C (p.His361=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	TSPYL1-related condition	GLikely benign
Select item 2052939	NM_003309.4(TSPYL1):c.1067T>C (p.Ile356Thr)	DSE, TSPYL1 (I356T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1542141	NM_003309.4(TSPYL1):c.1059T>C (p.Thr353=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1339090	NM_003309.4(TSPYL1):c.920T>C (p.Leu307Ser)	DSE, TSPYL1 (L307S)	Single nucleotide variant (missense variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GUncertain significance
Select item 2959962	NM_003309.4(TSPYL1):c.903A>G (p.Leu301=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2316335	NM_003309.4(TSPYL1):c.889G>T (p.Asp297Tyr)	DSE, TSPYL1 (D297Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390629	NM_003309.4(TSPYL1):c.883G>A (p.Gly295Ser)	DSE, TSPYL1 (G295S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3023174	NM_003309.4(TSPYL1):c.828G>A (p.Pro276=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 805870	NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	DSE, TSPYL1 (V242fs)	Microsatellite (frameshift variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GPathogenic/Likely pathogenic
Select item 2321713	NM_003309.4(TSPYL1):c.640G>T (p.Ala214Ser)	DSE, TSPYL1 (A214S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375233	NM_003309.4(TSPYL1):c.601G>A (p.Glu201Lys)	DSE, TSPYL1 (E201K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282604	NM_003309.4(TSPYL1):c.585G>T (p.Gln195His)	DSE, TSPYL1 (Q195H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2026869	NM_003309.4(TSPYL1):c.580G>T (p.Glu194Ter)	DSE, TSPYL1 (E194*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2063485	NM_003309.4(TSPYL1):c.572_574del (p.Glu191del)	DSE, TSPYL1 (E191del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2232478	NM_003309.4(TSPYL1):c.566A>C (p.Gln189Pro)	TSPYL1, DSE (Q189P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1601556	NM_003309.4(TSPYL1):c.541G>A (p.Ala181Thr)	TSPYL1, DSE (A181T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1301648	NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal)	DSE, LOC129997034 +1 more	Microsatellite (inframe_indel +2 more)	not provided +1 more	GBenign
Select item 2281866	NM_003309.4(TSPYL1):c.463G>T (p.Val155Leu)	DSE, LOC129997035 +1 more (V155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 5385	NM_003309.4(TSPYL1):c.460dup (p.Glu154fs)	DSE, LOC129997035 +1 more (E154fs)	Duplication (frameshift variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GPathogenic
Select item 1548897	NM_003309.4(TSPYL1):c.420C>G (p.Ser140=)	DSE, LOC129997035 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999573	NM_003309.4(TSPYL1):c.405T>C (p.Cys135=)	DSE, LOC129997035 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1908067	NM_003309.4(TSPYL1):c.402C>G (p.Ile134Met)	DSE, LOC129997035 +1 more (I134M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3053310	NM_003309.4(TSPYL1):c.396A>G (p.Leu132=)	TSPYL1, DSE +1 more	Single nucleotide variant (synonymous variant +1 more)	TSPYL1-related condition	GLikely benign
Select item 1050295	NM_003309.4(TSPYL1):c.392C>T (p.Ala131Val)	DSE, LOC129997035 +1 more (A131V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1600290	NM_003309.4(TSPYL1):c.378G>T (p.Gln126His)	DSE, LOC129997035 +1 more (Q126H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 743630	NM_003309.4(TSPYL1):c.354C>T (p.Asp118=)	TSPYL1, DSE +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608713	NM_003309.4(TSPYL1):c.345G>A (p.Met115Ile)	DSE, LOC129997035 +1 more (M115I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1476835	NM_003309.4(TSPYL1):c.290G>A (p.Gly97Glu)	DSE, LOC129997035 +1 more (G97E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736717	NM_003309.4(TSPYL1):c.280A>G (p.Ile94Val)	TSPYL1, DSE +1 more (I94V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 732961	NM_003309.4(TSPYL1):c.256G>A (p.Val86Ile)	DSE, LOC129997035 +1 more (V86I)	Single nucleotide variant (missense variant +1 more)	TSPYL1-related condition +1 more	GLikely benign
Select item 988762	NM_003309.4(TSPYL1):c.236del (p.Gly79fs)	DSE, LOC129997035 +1 more (G79fs)	Deletion (frameshift variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GLikely pathogenic
Select item 1548319	NM_003309.4(TSPYL1):c.220G>C (p.Ala74Pro)	LOC129997035, TSPYL1 +1 more (A74P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1608410	NM_003309.4(TSPYL1):c.184C>T (p.Pro62Ser)	DSE, TSPYL1 (P62S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2281431	NM_003309.4(TSPYL1):c.155G>C (p.Gly52Ala)	DSE, TSPYL1 (G52A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297649	NM_003309.4(TSPYL1):c.112G>T (p.Asp38Tyr)	DSE, TSPYL1 (D38Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791449	NM_003309.4(TSPYL1):c.99C>T (p.Tyr33=)	TSPYL1, DSE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2108350	NM_003309.4(TSPYL1):c.94C>G (p.Gln32Glu)	TSPYL1, DSE (Q32E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1539135	NM_003309.4(TSPYL1):c.87C>T (p.Asp29=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2560347	NM_003309.4(TSPYL1):c.50G>T (p.Ser17Ile)	DSE, TSPYL1 (S17I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250409	NM_003309.4(TSPYL1):c.32C>T (p.Thr11Ile)	DSE, TSPYL1 (T11I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331941	NM_003309.4(TSPYL1):c.17G>T (p.Gly6Val)	DSE, TSPYL1 (G6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331940	NM_003309.4(TSPYL1):c.16G>A (p.Gly6Arg)	DSE, TSPYL1 (G6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1297170	NM_001080976.3(DSE):c.-192G>C	DSE	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1297179	NM_001080976.3(DSE):c.-54+109A>G	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297180	NM_001080976.3(DSE):c.-54+134A>G	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278763	NM_001080976.3(DSE):c.-54+184A>T	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509963	NM_013352.4(DSE):c.-59G>T	DSE, LOC100287467 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 683469	NM_013352.4(DSE):c.-53-232T>A	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679090	NM_013352.4(DSE):c.-53-89A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669056	NM_013352.4(DSE):c.-53-4G>A	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3038803	NM_013352.4(DSE):c.-46C>T	DSE	Single nucleotide variant (5 prime UTR variant +2 more)	DSE-related condition	GLikely benign
Select item 1982723	NM_013352.4(DSE):c.5G>A (p.Arg2Lys)	DSE (R2K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1486382	NM_013352.4(DSE):c.8C>A (p.Thr3Asn)	DSE (T22N +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2907716	NM_013352.4(DSE):c.16C>T (p.Arg6Trp)	DSE (R6W +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2503345	NM_013352.4(DSE):c.22dup (p.Ala8fs)	DSE (A27fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2051710	NM_013352.4(DSE):c.16C>A (p.Arg6=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1417289	NM_013352.4(DSE):c.17G>A (p.Arg6Gln)	DSE (R6Q +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2791567	NM_013352.4(DSE):c.21G>C (p.Gly7=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2742440	NM_013352.4(DSE):c.27C>A (p.Pro9=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 916485	NM_013352.4(DSE):c.29G>A (p.Ser10Asn)	DSE (S10N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2146486	NM_013352.4(DSE):c.33G>A (p.Val11=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2192451	NM_013352.4(DSE):c.34T>A (p.Phe12Ile)	DSE (F31I +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 624264	NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)	DSE (F12Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2252247	NM_013352.4(DSE):c.41T>A (p.Ile14Lys)	DSE (I33K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1054354	NM_013352.4(DSE):c.53G>A (p.Cys18Tyr)	DSE (C18Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 387336	NM_013352.4(DSE):c.53G>T (p.Cys18Phe)	DSE (C18F +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome +2 more	GBenign
Select item 2189734	NM_013352.4(DSE):c.59T>G (p.Val20Gly)	DSE (V20G +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1215729	NM_013352.4(DSE):c.68A>G (p.Tyr23Cys)	DSE (Y23C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2716973	NM_013352.4(DSE):c.69C>T (p.Tyr23=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 512749	NM_013352.4(DSE):c.74_75delinsTT (p.Thr25Ile)	DSE (T25I +1 more)	Indel (missense variant +2 more)	not specified	GLikely benign
Select item 384684	NM_013352.4(DSE):c.74C>T (p.Thr25Ile)	DSE (T25I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1175749	NM_013352.4(DSE):c.75C>T (p.Thr25=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2074841	NM_013352.4(DSE):c.78C>A (p.Asp26Glu)	DSE (D26E +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 734253	NM_013352.4(DSE):c.78C>T (p.Asp26=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1310544	NM_013352.4(DSE):c.95T>C (p.Met32Thr)	DSE (M32T +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 1030283	NM_013352.4(DSE):c.95T>A (p.Met32Lys)	DSE (M51K +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1441489	NM_013352.4(DSE):c.101C>G (p.Pro34Arg)	DSE (P53R +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 384700	NM_013352.4(DSE):c.101C>T (p.Pro34Leu)	DSE (P34L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 2705712	NM_013352.4(DSE):c.102C>T (p.Pro34=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1586828	NM_013352.4(DSE):c.110A>T (p.Asn37Ile)	DSE (N37I +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1002117	NM_013352.4(DSE):c.110A>G (p.Asn37Ser)	DSE (N37S +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 510458	NM_013352.4(DSE):c.114C>T (p.Ala38=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
Select item 737936	NM_013352.4(DSE):c.120C>T (p.Tyr40=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1000265	NM_013352.4(DSE):c.121G>A (p.Asp41Asn)	DSE (D41N +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance

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