11215[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 2616635	NM_012443.4(SPAG6):c.105G>C (p.Glu35Asp)	SPAG6 (E35D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3037471	NM_012443.4(SPAG6):c.122-4031A>C	SPAG6 (M1L)	Single nucleotide variant (missense variant +2 more)	SPAG6-related disorder	GLikely benign
Select item 2485797	NM_012443.4(SPAG6):c.167C>G (p.Thr56Arg)	SPAG6 (T34R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387676	NM_012443.4(SPAG6):c.441G>C (p.Trp147Cys)	SPAG6 (W122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386938	NM_012443.4(SPAG6):c.457G>A (p.Ala153Thr)	SPAG6 (A131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718025	NM_012443.4(SPAG6):c.534G>A (p.Glu178=)	SPAG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220220	NM_012443.4(SPAG6):c.557T>C (p.Ile186Thr)	SPAG6 (I161T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168085	NM_012443.4(SPAG6):c.661C>A (p.Pro221Thr)	SPAG6 (P196T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314119	NM_012443.4(SPAG6):c.700A>T (p.Ser234Cys)	SPAG6 (S209C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168086	NM_012443.4(SPAG6):c.763G>C (p.Val255Leu)	SPAG6 (V233L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552954	NM_012443.4(SPAG6):c.850G>A (p.Glu284Lys)	SPAG6 (E259K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350072	NM_012443.4(SPAG6):c.913T>A (p.Cys305Ser)	SPAG6 (C283S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168087	NM_012443.4(SPAG6):c.928C>T (p.Arg310Trp)	SPAG6 (R285W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168088	NM_012443.4(SPAG6):c.929G>T (p.Arg310Leu)	SPAG6 (R285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526790	NM_012443.4(SPAG6):c.982G>A (p.Ala328Thr)	SPAG6 (A328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325485	NM_012443.4(SPAG6):c.998T>C (p.Ile333Thr)	SPAG6 (I311T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713977	NM_012443.4(SPAG6):c.1035A>G (p.Ser345=)	SPAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294025	NM_012443.4(SPAG6):c.1163T>C (p.Met388Thr)	SPAG6 (M363T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350805	NM_012443.4(SPAG6):c.1232G>A (p.Cys411Tyr)	SPAG6 (C411Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168084	NM_012443.4(SPAG6):c.1250T>G (p.Leu417Arg)	SPAG6 (L392R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535213	NM_012443.4(SPAG6):c.1345C>T (p.Leu449Phe)	SPAG6 (L424F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484034	NM_012443.4(SPAG6):c.1355C>T (p.Thr452Ile)	SPAG6 (T430I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396454	NM_012443.4(SPAG6):c.1400G>T (p.Gly467Val)	SPAG6 (G442V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808767	GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3	ARMC3, BMI1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442597	GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3	BMI1, COMMD3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 221472	GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3	BMI1, COMMD3 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37