TSPYL1[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +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	CALHM4, CALHM5 +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 specified +1 more	GBenign
Select item 1573308	NM_003309.4(TSPYL1):c.1116C>T (p.Asp372=)	DSE, TSPYL1	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)	TSPYL1-related disorder +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 disorder	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 +1 more	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 3183876	NM_003309.4(TSPYL1):c.755A>G (p.Gln252Arg)	DSE, TSPYL1 (Q252R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3183875	NM_003309.4(TSPYL1):c.647A>C (p.Glu216Ala)	DSE, TSPYL1 (E216A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3183874	NM_003309.4(TSPYL1):c.619G>A (p.Glu207Lys)	DSE, TSPYL1 (E207K)	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)	DSE, TSPYL1 (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)	DSE, TSPYL1 (A181T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1301648	NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal)	LOC129997034, DSE +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 +1 more	GUncertain significance
Select item 3053310	NM_003309.4(TSPYL1):c.396A>G (p.Leu132=)	DSE, LOC129997035 +1 more	Single nucleotide variant (synonymous variant +1 more)	TSPYL1-related disorder	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)	Inborn genetic diseases	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=)	DSE, LOC129997035 +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 736717	NM_003309.4(TSPYL1):c.280A>G (p.Ile94Val)	LOC129997035, TSPYL1 +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 disorder +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)	DSE, LOC129997035 +1 more (A74P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3183873	NM_003309.4(TSPYL1):c.208G>A (p.Val70Ile)	DSE, LOC129997035 +1 more (V70I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3183872	NM_003309.4(TSPYL1):c.146C>T (p.Pro49Leu)	DSE, TSPYL1 (P49L)	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=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	DSE-related disorder +1 more	GBenign/Likely benign
Select item 2108350	NM_003309.4(TSPYL1):c.94C>G (p.Gln32Glu)	DSE, TSPYL1 (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 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	TRAPPC3L, TSPYL4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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Items: 79