ClinVar for Gene (Select 55176) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202821	NM_014142.4(NUDT5):c.631C>T (p.Pro211Ser)	NUDT5, SEC61A2 (P125S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159388	NM_018144.4(SEC61A2):c.71G>A (p.Arg24Lys)	SEC61A2 (R24K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159387	NM_018144.4(SEC61A2):c.70A>G (p.Arg24Gly)	SEC61A2 (R24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159386	NM_018144.4(SEC61A2):c.1116T>G (p.Cys372Trp)	SEC61A2 (C350W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159385	NM_018144.4(SEC61A2):c.1084G>A (p.Val362Ile)	SEC61A2 (V362I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2559635	NM_018144.4(SEC61A2):c.429G>C (p.Met143Ile)	SEC61A2 (M143I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544650	NM_018144.4(SEC61A2):c.1321A>G (p.Ile441Val)	SEC61A2 (I419V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337827	NM_018144.4(SEC61A2):c.1042C>G (p.Pro348Ala)	SEC61A2 (P326A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328432	NM_018144.4(SEC61A2):c.584C>T (p.Ala195Val)	SEC61A2 (A195V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 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 1447308	NC_000010.10:g.(?_12111033)_(13342042_?)dup	CAMK1D, CCDC3 +8 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 1255614	NM_018144.4(SEC61A2):c.508C>A (p.Gln170Lys)	SEC61A2 (Q148K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815318	GRCh37/hg19 10p14-13(chr10:12165983-12957560)x3	CCDC3, CAMK1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686673	GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1	CDC123, DHTKD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
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 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
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 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 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 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
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 149272	GRCh38/hg38 10p14(chr10:11738467-12180308)x1	DHTKD1, ECHDC3 +27 more	Copy number loss	See cases	GUncertain significance
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 147372	GRCh38/hg38 10p14-13(chr10:11712990-12319959)x3	CDC123, DHTKD1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	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
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38