CATSPERB[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 2255935	NM_024764.4(CATSPERB):c.3059G>T (p.Gly1020Val)	CATSPERB (G1020V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289471	NM_024764.4(CATSPERB):c.2880G>C (p.Glu960Asp)	CATSPERB (E960D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239435	NM_024764.4(CATSPERB):c.2827C>T (p.Arg943Cys)	CATSPERB (R943C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263549	NM_024764.4(CATSPERB):c.2729A>G (p.Gln910Arg)	CATSPERB (Q910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370799	NM_024764.4(CATSPERB):c.2716G>A (p.Gly906Ser)	CATSPERB (G906S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644459	NM_024764.4(CATSPERB):c.2715C>T (p.Thr905=)	CATSPERB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399433	NM_024764.4(CATSPERB):c.2683C>T (p.Pro895Ser)	CATSPERB (P895S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137796	NM_024764.4(CATSPERB):c.2632G>C (p.Ala878Pro)	CATSPERB (A878P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137795	NM_024764.4(CATSPERB):c.2531C>G (p.Pro844Arg)	CATSPERB (P844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539033	NM_024764.4(CATSPERB):c.2527A>T (p.Ile843Phe)	CATSPERB (I843F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270018	NM_024764.4(CATSPERB):c.2519G>C (p.Ser840Thr)	CATSPERB (S840T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248565	NM_024764.4(CATSPERB):c.2471C>G (p.Thr824Arg)	CATSPERB (T824R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263547	NM_024764.4(CATSPERB):c.2440A>G (p.Thr814Ala)	CATSPERB (T814A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278142	NM_024764.4(CATSPERB):c.2249G>A (p.Arg750Gln)	CATSPERB (R750Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561220	NM_024764.4(CATSPERB):c.2207T>C (p.Ile736Thr)	CATSPERB (I736T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137794	NM_024764.4(CATSPERB):c.2138T>A (p.Ile713Lys)	CATSPERB (I713K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137793	NM_024764.4(CATSPERB):c.2047A>G (p.Met683Val)	CATSPERB (M683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349163	NM_024764.4(CATSPERB):c.2006C>T (p.Thr669Ile)	CATSPERB (T669I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524309	NM_024764.4(CATSPERB):c.1922A>T (p.Asp641Val)	CATSPERB (D641V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263548	NM_024764.4(CATSPERB):c.1771G>C (p.Val591Leu)	CATSPERB (V591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513753	NM_024764.4(CATSPERB):c.1771G>A (p.Val591Ile)	CATSPERB (V591I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464686	NM_024764.4(CATSPERB):c.1643A>G (p.Glu548Gly)	CATSPERB (E548G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310530	NM_024764.4(CATSPERB):c.1630A>G (p.Thr544Ala)	CATSPERB (T544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263550	NM_024764.4(CATSPERB):c.1555G>A (p.Ala519Thr)	CATSPERB (A519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137792	NM_024764.4(CATSPERB):c.1532T>C (p.Phe511Ser)	CATSPERB (F511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371598	NM_024764.4(CATSPERB):c.1435A>G (p.Met479Val)	CATSPERB (M479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290058	NM_024764.4(CATSPERB):c.1385C>G (p.Ala462Gly)	CATSPERB (A462G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137791	NM_024764.4(CATSPERB):c.1309G>A (p.Gly437Ser)	CATSPERB (G437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411266	NM_024764.4(CATSPERB):c.1241T>C (p.Met414Thr)	CATSPERB (M414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263546	NM_024764.4(CATSPERB):c.1234G>A (p.Val412Ile)	CATSPERB (V412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211627	NM_024764.4(CATSPERB):c.1208G>A (p.Arg403Gln)	CATSPERB (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137790	NM_024764.4(CATSPERB):c.1121A>G (p.Tyr374Cys)	CATSPERB (Y374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521105	NM_024764.4(CATSPERB):c.1111T>C (p.Tyr371His)	CATSPERB (Y371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279643	NM_024764.4(CATSPERB):c.1097G>A (p.Arg366His)	CATSPERB (R366H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205424	NM_024764.4(CATSPERB):c.830C>T (p.Ser277Leu)	CATSPERB (S277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459996	NM_024764.4(CATSPERB):c.749C>T (p.Thr250Met)	CATSPERB (T250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137799	NM_024764.4(CATSPERB):c.652C>A (p.His218Asn)	CATSPERB (H218N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227261	NM_024764.4(CATSPERB):c.625A>G (p.Ile209Val)	CATSPERB (I209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596695	NM_024764.4(CATSPERB):c.590G>T (p.Gly197Val)	CATSPERB (G197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295682	NM_024764.4(CATSPERB):c.569C>A (p.Ala190Asp)	CATSPERB (A190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601991	NM_024764.4(CATSPERB):c.470C>T (p.Pro157Leu)	CATSPERB (P157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137798	NM_024764.4(CATSPERB):c.427A>T (p.Ile143Phe)	CATSPERB (I143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512329	NM_024764.4(CATSPERB):c.407C>A (p.Thr136Asn)	CATSPERB (T136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484924	NM_024764.4(CATSPERB):c.284G>A (p.Gly95Asp)	CATSPERB (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137797	NM_024764.4(CATSPERB):c.281A>G (p.Asn94Ser)	CATSPERB (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263551	NM_024764.4(CATSPERB):c.118T>C (p.Phe40Leu)	CATSPERB (F40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137800	NM_024764.4(CATSPERB):c.94C>T (p.Arg32Cys)	CATSPERB (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302921	NM_024764.4(CATSPERB):c.18A>G (p.Ile6Met)	CATSPERB (I6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684744	GRCh37/hg19 14q32.12(chr14:91992919-92278047)x3	CATSPERB, TC2N	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 2674645	NM_024764.4(CATSPERB):c.2126G>A (p.Arg709Gln)	CATSPERB (R709Q)	Single nucleotide variant (missense variant)	Male infertility	GPathogenic

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Items: 72