ClinVar for Gene (Select 339834) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285697	NM_001135197.2(IHO1):c.538G>C (p.Glu180Gln)	IHO1 (E180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285696	NM_001135197.2(IHO1):c.291A>G (p.Ile97Met)	IHO1 (I97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	ARIH2, ARIH2OS +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3108989	NM_001135197.2(IHO1):c.920A>T (p.Asn307Ile)	IHO1 (N307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108988	NM_001135197.2(IHO1):c.821C>T (p.Ser274Leu)	IHO1 (S274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108987	NM_001135197.2(IHO1):c.818C>T (p.Thr273Met)	IHO1 (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108986	NM_001135197.2(IHO1):c.785C>T (p.Ser262Leu)	IHO1 (S262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108985	NM_001135197.2(IHO1):c.752C>T (p.Pro251Leu)	IHO1 (P251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108984	NM_001135197.2(IHO1):c.626G>C (p.Arg209Thr)	IHO1 (R209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108983	NM_001135197.2(IHO1):c.394A>G (p.Ser132Gly)	IHO1 (S132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108982	NM_001135197.2(IHO1):c.169G>T (p.Ala57Ser)	IHO1 (A57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108981	NM_001135197.2(IHO1):c.1573A>G (p.Thr525Ala)	IHO1 (T525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108980	NM_001135197.2(IHO1):c.1396A>G (p.Ile466Val)	IHO1 (I466V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108979	NM_001135197.2(IHO1):c.1309C>T (p.Arg437Trp)	IHO1 (R437W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108978	NM_001135197.2(IHO1):c.1300G>A (p.Val434Ile)	IHO1 (V434I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108977	NM_001135197.2(IHO1):c.1180A>G (p.Thr394Ala)	IHO1 (T394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108976	NM_001135197.2(IHO1):c.1123C>G (p.Pro375Ala)	IHO1 (P375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108974	NM_001135197.2(IHO1):c.1109A>G (p.His370Arg)	IHO1 (H370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108973	NM_001135197.2(IHO1):c.1094C>T (p.Thr365Ile)	IHO1 (T365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108972	NM_001135197.2(IHO1):c.1012G>A (p.Ala338Thr)	IHO1 (A338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546711	NM_001135197.2(IHO1):c.761T>G (p.Leu254Arg)	IHO1 (L254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540355	NM_001135197.2(IHO1):c.1187T>C (p.Leu396Ser)	IHO1 (L396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521626	NM_001135197.2(IHO1):c.1001C>T (p.Ala334Val)	IHO1 (A334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477444	NM_001135197.2(IHO1):c.699G>T (p.Gln233His)	IHO1 (Q233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474439	NM_001135197.2(IHO1):c.432A>C (p.Glu144Asp)	IHO1 (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472077	NM_001135197.2(IHO1):c.1024C>T (p.His342Tyr)	IHO1 (H342Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	NICN1, RHOA +11 more	Deletion	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37