BARHL2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2213461	NM_020063.2(BARHL2):c.1132A>G (p.Ser378Gly)	BARHL2 (S378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132984	NM_020063.2(BARHL2):c.1127T>C (p.Leu376Ser)	BARHL2 (L376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132983	NM_020063.2(BARHL2):c.1090G>A (p.Gly364Ser)	BARHL2 (G364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132982	NM_020063.2(BARHL2):c.1084A>T (p.Ile362Phe)	BARHL2 (I362F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132981	NM_020063.2(BARHL2):c.1076G>A (p.Arg359His)	BARHL2 (R359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394628	NM_020063.2(BARHL2):c.1075C>T (p.Arg359Cys)	BARHL2 (R359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344038	NM_020063.2(BARHL2):c.995C>T (p.Ala332Val)	BARHL2 (A332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262162	NM_020063.2(BARHL2):c.935C>A (p.Pro312Gln)	BARHL2 (P312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323528	NM_020063.2(BARHL2):c.667G>A (p.Glu223Lys)	BARHL2 (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132990	NM_020063.2(BARHL2):c.660T>G (p.Ser220Arg)	BARHL2 (S220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132989	NM_020063.2(BARHL2):c.656C>T (p.Thr219Met)	BARHL2 (T219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610987	NM_020063.2(BARHL2):c.589A>C (p.Lys197Gln)	BARHL2 (K197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132988	NM_020063.2(BARHL2):c.573C>G (p.Ser191Arg)	BARHL2 (S191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598247	NM_020063.2(BARHL2):c.550C>G (p.Pro184Ala)	BARHL2 (P184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382631	NM_020063.2(BARHL2):c.511C>G (p.Pro171Ala)	BARHL2 (P171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270749	NM_020063.2(BARHL2):c.506A>G (p.His169Arg)	BARHL2 (H169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132987	NM_020063.2(BARHL2):c.374C>G (p.Pro125Arg)	BARHL2 (P125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529590	NM_020063.2(BARHL2):c.364C>G (p.Pro122Ala)	BARHL2 (P122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468456	NM_020063.2(BARHL2):c.344T>C (p.Leu115Pro)	BARHL2 (L115P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132986	NM_020063.2(BARHL2):c.332A>G (p.Gln111Arg)	BARHL2 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132985	NM_020063.2(BARHL2):c.162G>T (p.Glu54Asp)	BARHL2 (E54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318371	NM_020063.2(BARHL2):c.152C>T (p.Pro51Leu)	BARHL2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681497	NM_020063.2(BARHL2):c.102G>A (p.Pro34=)	BARHL2	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2213185	NM_020063.2(BARHL2):c.44C>G (p.Thr15Arg)	BARHL2 (T15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814107	GRCh37/hg19 1p22.2(chr1:90656649-91356561)x3	BARHL2	Copy number gain	not provided	GUncertain significance
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32