Related gene-specific medical variations for Gene (Select 7259) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329674	NM_003309.4(TSPYL1):c.481G>A (p.Ala161Thr)	DSE, TSPYL1 (A161T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 3053310	NM_003309.4(TSPYL1):c.396A>G (p.Leu132=)	DSE, LOC129997035 +1 more	Single nucleotide variant (intron variant +1 more)	TSPYL1-related disorder	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2063485	NM_003309.4(TSPYL1):c.572_574del (p.Glu191del)	DSE, TSPYL1 (E191del)	Deletion (inframe_deletion +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 791449	NM_003309.4(TSPYL1):c.99C>T (p.Tyr33=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 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 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 736717	NM_003309.4(TSPYL1):c.280A>G (p.Ile94Val)	DSE, LOC129997035 +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)	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	GLikely benign
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

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Links from Gene

Items: 53