TSSK1B[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 2483661	NM_032028.4(TSSK1B):c.1069C>T (p.Pro357Ser)	MCC, TSSK1B (P357S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220865	NM_032028.4(TSSK1B):c.1016C>T (p.Ser339Leu)	MCC, TSSK1B (S339L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210847	NM_032028.4(TSSK1B):c.1012C>G (p.Gln338Glu)	MCC, TSSK1B (Q338E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183956	NM_032028.4(TSSK1B):c.1000C>A (p.Gln334Lys)	MCC, TSSK1B (Q334K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183963	NM_032028.4(TSSK1B):c.989G>T (p.Gly330Val)	MCC, TSSK1B (G330V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329711	NM_032028.4(TSSK1B):c.931A>G (p.Lys311Glu)	MCC, TSSK1B (K311E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595437	NM_032028.4(TSSK1B):c.896C>A (p.Thr299Asn)	MCC, TSSK1B (T299N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609567	NM_032028.4(TSSK1B):c.891G>T (p.Leu297Phe)	MCC, TSSK1B (L297F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384826	NM_032028.4(TSSK1B):c.875G>A (p.Arg292Gln)	MCC, TSSK1B (R292Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465391	NM_032028.4(TSSK1B):c.874C>T (p.Arg292Trp)	MCC, TSSK1B (R292W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412421	NM_032028.4(TSSK1B):c.830G>A (p.Arg277Gln)	MCC, TSSK1B (R277Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329709	NM_032028.4(TSSK1B):c.776G>T (p.Arg259Leu)	MCC, TSSK1B (R259L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183962	NM_032028.4(TSSK1B):c.769G>A (p.Val257Ile)	MCC, TSSK1B (V257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474929	NM_032028.4(TSSK1B):c.739G>A (p.Asp247Asn)	MCC, TSSK1B (D247N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293576	NM_032028.4(TSSK1B):c.725C>T (p.Thr242Ile)	MCC, TSSK1B (T242I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183961	NM_032028.4(TSSK1B):c.697G>A (p.Val233Ile)	MCC, TSSK1B (V233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327995	NM_032028.4(TSSK1B):c.649G>A (p.Asp217Asn)	MCC, TSSK1B (D217N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342886	NM_032028.4(TSSK1B):c.625A>G (p.Met209Val)	MCC, TSSK1B (M209V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330564	NM_032028.4(TSSK1B):c.592G>A (p.Asp198Asn)	MCC, TSSK1B (D198N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407144	NM_032028.4(TSSK1B):c.586G>A (p.Val196Met)	MCC, TSSK1B (V196M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376435	NM_032028.4(TSSK1B):c.545C>T (p.Ala182Val)	MCC, TSSK1B (A182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289102	NM_032028.4(TSSK1B):c.500G>A (p.Gly167Asp)	MCC, TSSK1B (G167D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341715	NM_032028.4(TSSK1B):c.488G>A (p.Arg163Gln)	MCC, TSSK1B (R163Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343279	NM_032028.4(TSSK1B):c.397G>A (p.Val133Ile)	MCC, TSSK1B (V133I)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3183960	NM_032028.4(TSSK1B):c.313C>T (p.Arg105Trp)	MCC, TSSK1B (R105W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397209	NM_032028.4(TSSK1B):c.271G>C (p.Glu91Gln)	MCC, TSSK1B (E91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183959	NM_032028.4(TSSK1B):c.209G>A (p.Cys70Tyr)	MCC, TSSK1B (C70Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344691	NM_032028.4(TSSK1B):c.196A>G (p.Met66Val)	MCC, TSSK1B (M66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329708	NM_032028.4(TSSK1B):c.175C>T (p.Arg59Trp)	MCC, TSSK1B (R59W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376676	NM_032028.4(TSSK1B):c.26G>A (p.Arg9Gln)	MCC, TSSK1B (R9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183958	NM_032028.4(TSSK1B):c.19C>T (p.Leu7Phe)	MCC, TSSK1B (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392591	NM_032028.4(TSSK1B):c.10G>A (p.Ala4Thr)	MCC, TSSK1B (A4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329710	NM_032028.4(TSSK1B):c.4G>T (p.Asp2Tyr)	MCC, TSSK1B (D2Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062875	GRCh37/hg19 5q22.2(chr5:111804505-112842185)x3	APC, DCP2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2684426	GRCh37/hg19 5q22.2-22.3(chr5:111971571-113400877)x3	APC, DCP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527188	GRCh37/hg19 5q22.2-22.3(chr5:112557390-113533814)	MCC, TSSK1B +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527187	GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)	TSSK1B, YTHDC2 +7 more	Copy number loss	not specified	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 814730	GRCh37/hg19 5q22.2(chr5:112675098-112819027)x1	TSSK1B, MCC	Copy number loss	not provided	GUncertain significance
Select item 814727	GRCh37/hg19 5q22.2-22.3(chr5:112115007-113452981)x3	APC, DCP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 66