ClinVar for Gene (Select 338596) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684596	GRCh37/hg19 10p13-12.33(chr10:17253134-17723521)x3	HACD1, ST8SIA6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2592456	NM_001004470.3(ST8SIA6):c.212A>C (p.Asn71Thr)	ST8SIA6, ST8SIA6-AS1 (N71T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2559041	NM_001004470.3(ST8SIA6):c.1149C>A (p.His383Gln)	ST8SIA6 (H232Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546396	NM_001004470.3(ST8SIA6):c.906G>T (p.Lys302Asn)	ST8SIA6 (K151N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532931	NM_001004470.3(ST8SIA6):c.943G>A (p.Gly315Ser)	ST8SIA6 (G164S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507868	NM_001004470.3(ST8SIA6):c.224T>G (p.Leu75Arg)	ST8SIA6, ST8SIA6-AS1 (L75R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407982	NM_001004470.3(ST8SIA6):c.502A>G (p.Ile168Val)	ST8SIA6 (I168V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347797	NM_001004470.3(ST8SIA6):c.890T>A (p.Leu297Gln)	ST8SIA6 (L297Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333668	NM_001004470.3(ST8SIA6):c.970G>A (p.Gly324Ser)	ST8SIA6 (G173S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323052	NM_001004470.3(ST8SIA6):c.1008A>C (p.Lys336Asn)	ST8SIA6 (K185N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210970	NM_001004470.3(ST8SIA6):c.1012G>A (p.Val338Met)	ST8SIA6 (V338M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808778	GRCh37/hg19 10p12.33(chr10:17376968-18486923)x3	CACNB2, HACD1 +3 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 1410118	NC_000010.10:g.(?_16866974)_(18828653_?)dup	CACNB2, CUBN +6 more	Duplication	not provided	GUncertain significance
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 685238	GRCh37/hg19 10p13-12.33(chr10:17191691-17663784)x3	HACD1, ST8SIA6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443635	GRCh37/hg19 10p12.33(chr10:17450489-18106263)x3	HACD1, ST8SIA6 +1 more	Copy number gain	See cases	GUncertain significance
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 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441870	GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3	ARL5B, CACNB2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 161480	NM_001004470.3(ST8SIA6):c.344G>T (p.Trp115Leu)	ST8SIA6 (W115L)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32