954[HGNC] - ClinVar

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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	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +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

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Items: 32