CTBS[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2474624	NM_004388.3(CTBS):c.1091A>G (p.Asp364Gly)	SPATA1, CTBS (D364G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718265	NM_004388.3(CTBS):c.1071C>T (p.Asn357=)	CTBS, SPATA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723110	NM_004388.3(CTBS):c.1045C>T (p.Arg349Trp)	CTBS, SPATA1 (R349W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3270020	NM_004388.3(CTBS):c.998C>G (p.Pro333Arg)	CTBS, SPATA1 (P333R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398100	NM_004388.3(CTBS):c.865G>A (p.Val289Met)	CTBS, SPATA1 (V289M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564091	NM_004388.3(CTBS):c.859C>T (p.Arg287Cys)	CTBS, SPATA1 (R287C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322132	NM_004388.3(CTBS):c.827T>C (p.Phe276Ser)	CTBS, SPATA1 (F276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638903	NM_004388.3(CTBS):c.812T>C (p.Ile271Thr)	CTBS, SPATA1 (I271T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2536681	NM_004388.3(CTBS):c.799C>G (p.His267Asp)	CTBS, SPATA1 (H267D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284856	NM_004388.3(CTBS):c.776C>A (p.Thr259Asn)	CTBS, SPATA1 (T259N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078550	NM_004388.3(CTBS):c.739C>T (p.Leu247Phe)	CTBS, SPATA1 (L247F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400150	NM_004388.3(CTBS):c.716A>G (p.Lys239Arg)	CTBS, SPATA1 (K239R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078549	NM_004388.3(CTBS):c.695C>A (p.Thr232Asn)	CTBS, SPATA1 (T232N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270019	NM_004388.3(CTBS):c.617T>C (p.Val206Ala)	CTBS, SPATA1 (V206A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342896	NM_004388.3(CTBS):c.505C>A (p.Arg169Ser)	CTBS (R169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522795	NM_004388.3(CTBS):c.485A>G (p.Glu162Gly)	CTBS (E162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515797	NM_004388.3(CTBS):c.425T>G (p.Ile142Arg)	CTBS (I142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370415	NM_004388.3(CTBS):c.367A>C (p.Ile123Leu)	CTBS (I123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486495	NM_004388.3(CTBS):c.362C>A (p.Ser121Tyr)	CTBS (S121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609155	NM_004388.3(CTBS):c.353T>C (p.Phe118Ser)	CTBS (F118S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383762	NM_004388.3(CTBS):c.344A>G (p.Asp115Gly)	CTBS (D115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298548	NM_004388.3(CTBS):c.308T>C (p.Val103Ala)	CTBS (V103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220926	NM_004388.3(CTBS):c.260A>G (p.Tyr87Cys)	CTBS (Y87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078548	NM_004388.3(CTBS):c.231G>T (p.Gln77His)	CTBS (Q77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078547	NM_004388.3(CTBS):c.218A>G (p.Tyr73Cys)	CTBS (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334010	NM_004388.3(CTBS):c.192T>A (p.Asp64Glu)	CTBS (D64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602572	NM_004388.3(CTBS):c.169G>C (p.Asp57His)	CTBS, LOC129930843 (D57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728719	NM_004388.3(CTBS):c.102G>A (p.Arg34=)	CTBS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528964	NM_004388.3(CTBS):c.95C>T (p.Ala32Val)	CTBS (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214140	NM_004388.3(CTBS):c.62G>C (p.Gly21Ala)	CTBS (G21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614457	NM_004388.3(CTBS):c.20G>C (p.Arg7Pro)	CTBS (R7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401345	NM_004388.3(CTBS):c.8G>A (p.Arg3Gln)	CTBS (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 979891	GRCh37/hg19 1p22.3(chr1:84959733-85087864)x1	CTBS, GNG5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 221413	GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3	GNG5, CTBS +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47