TSPYL4[gene] - ClinVar

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Items: 49

	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 2333525	NM_021648.5(TSPYL4):c.1236G>C (p.Gln412His)	TSPYL4 (Q412H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612771	NM_021648.5(TSPYL4):c.1085G>A (p.Ser362Asn)	TSPYL4 (S362N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393717	NM_021648.5(TSPYL4):c.1037G>A (p.Arg346Gln)	TSPYL4 (R346Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542828	NM_021648.5(TSPYL4):c.1001G>C (p.Arg334Pro)	TSPYL4 (R334P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294174	NM_021648.5(TSPYL4):c.888C>G (p.Phe296Leu)	TSPYL4 (F296L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251304	NM_021648.5(TSPYL4):c.725G>A (p.Arg242His)	TSPYL4 (R242H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656862	NM_021648.5(TSPYL4):c.687G>A (p.Glu229=)	TSPYL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318455	NM_021648.5(TSPYL4):c.656C>A (p.Ala219Asp)	TSPYL4 (A219D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283228	NM_021648.5(TSPYL4):c.639G>C (p.Glu213Asp)	TSPYL4 (E213D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243186	NM_021648.5(TSPYL4):c.628A>G (p.Ile210Val)	TSPYL4 (I210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332168	NM_021648.5(TSPYL4):c.552G>T (p.Lys184Asn)	TSPYL4 (K184N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390595	NM_021648.5(TSPYL4):c.545A>G (p.Glu182Gly)	TSPYL4 (E182G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241463	NM_021648.5(TSPYL4):c.377C>T (p.Ala126Val)	TSPYL4 (A126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602109	NM_021648.5(TSPYL4):c.368G>T (p.Arg123Leu)	TSPYL4 (R123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285469	NM_021648.5(TSPYL4):c.367C>T (p.Arg123Cys)	TSPYL4 (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398126	NM_021648.5(TSPYL4):c.319G>A (p.Glu107Lys)	LOC129997032, TSPYL4 (E107K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610842	NM_021648.5(TSPYL4):c.177G>T (p.Glu59Asp)	TSPYL4 (E59D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218120	NM_021648.5(TSPYL4):c.151G>A (p.Gly51Arg)	TSPYL4 (G51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552287	NM_021648.5(TSPYL4):c.121G>A (p.Glu41Lys)	TSPYL4 (E41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296360	NM_021648.5(TSPYL4):c.110G>C (p.Arg37Pro)	TSPYL4 (R37P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230957	NM_021648.5(TSPYL4):c.13G>A (p.Asp5Asn)	TSPYL4 (D5N)	Single nucleotide variant (missense variant)	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 1340862	GRCh37/hg19 6q22.1(chr6:116480702-116577174)x1	NT5DC1, TSPYL4	Copy number loss	not provided	GUncertain significance
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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: 49