TSPYL5[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 2296325	NM_033512.3(TSPYL5):c.1237G>A (p.Val413Met)	LOC101927066, TSPYL5 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557160	NM_033512.3(TSPYL5):c.1162C>T (p.Arg388Cys)	LOC101927066, TSPYL5 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183904	NM_033512.3(TSPYL5):c.1156G>A (p.Gly386Arg)	LOC101927066, TSPYL5 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359550	NM_033512.3(TSPYL5):c.1042C>T (p.Arg348Cys)	LOC101927066, TSPYL5 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329685	NM_033512.3(TSPYL5):c.1020C>A (p.Ser340Arg)	LOC101927066, TSPYL5 (S340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470664	NM_033512.3(TSPYL5):c.977C>T (p.Thr326Ile)	LOC101927066, TSPYL5 (T326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658701	NM_033512.3(TSPYL5):c.819A>G (p.Val273=)	LOC101927066, TSPYL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329687	NM_033512.3(TSPYL5):c.814G>C (p.Glu272Gln)	LOC101927066, TSPYL5 (E272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183909	NM_033512.3(TSPYL5):c.760C>A (p.Gln254Lys)	LOC101927066, TSPYL5 (Q254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288927	NM_033512.3(TSPYL5):c.741T>G (p.Asn247Lys)	LOC101927066, TSPYL5 (N247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183908	NM_033512.3(TSPYL5):c.686A>G (p.Lys229Arg)	LOC101927066, TSPYL5 (K229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183907	NM_033512.3(TSPYL5):c.602G>A (p.Ser201Asn)	LOC101927066, TSPYL5 (S201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290385	NM_033512.3(TSPYL5):c.593C>T (p.Thr198Met)	LOC101927066, TSPYL5 (T198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329688	NM_033512.3(TSPYL5):c.575G>T (p.Gly192Val)	LOC101927066, TSPYL5 (G192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329686	NM_033512.3(TSPYL5):c.517G>T (p.Ala173Ser)	LOC101927066, TSPYL5 (A173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342507	NM_033512.3(TSPYL5):c.505A>G (p.Lys169Glu)	LOC101927066, TSPYL5 (K169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318715	NM_033512.3(TSPYL5):c.449C>G (p.Pro150Arg)	LOC101927066, TSPYL5 (P150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183906	NM_033512.3(TSPYL5):c.440A>G (p.Lys147Arg)	LOC101927066, TSPYL5 (K147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260502	NM_033512.3(TSPYL5):c.436G>C (p.Gly146Arg)	LOC101927066, TSPYL5 (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250117	NM_033512.3(TSPYL5):c.409C>G (p.Arg137Gly)	LOC101927066, TSPYL5 (R137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783011	NM_033512.3(TSPYL5):c.407C>T (p.Pro136Leu)	LOC101927066, TSPYL5 (P136L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2213614	NM_033512.3(TSPYL5):c.220G>A (p.Gly74Arg)	LOC101927066, TSPYL5 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478390	NM_033512.3(TSPYL5):c.214C>T (p.Arg72Trp)	LOC101927066, TSPYL5 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233311	NM_033512.3(TSPYL5):c.67G>C (p.Ala23Pro)	LOC101927066, TSPYL5 (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183905	NM_033512.3(TSPYL5):c.32C>T (p.Ser11Phe)	LOC101927066, TSPYL5 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563528	GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1	SDC2, UQCRB +5 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 60