ClinVar for Gene (Select 23593) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283843	NM_014320.3(HEBP2):c.400G>C (p.Glu134Gln)	HEBP2 (E134Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104909	NM_014320.3(HEBP2):c.541A>G (p.Ser181Gly)	HEBP2 (S192G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104908	NM_014320.3(HEBP2):c.533G>A (p.Gly178Asp)	HEBP2 (G178D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104907	NM_014320.3(HEBP2):c.386T>C (p.Ile129Thr)	HEBP2 (I129T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104906	NM_014320.3(HEBP2):c.313A>G (p.Ile105Val)	HEBP2 (I105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104905	NM_014320.3(HEBP2):c.265G>A (p.Val89Met)	HEBP2 (V100M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104904	NM_014320.3(HEBP2):c.260C>T (p.Ala87Val)	HEBP2 (A98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2656941	NM_014320.3(HEBP2):c.427G>A (p.Asp143Asn)	HEBP2 (D143N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2617273	NM_014320.3(HEBP2):c.20C>T (p.Pro7Leu)	HEBP2 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521174	NM_014320.3(HEBP2):c.310A>G (p.Thr104Ala)	HEBP2 (T104A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455694	NM_014320.3(HEBP2):c.317C>T (p.Thr106Ile)	HEBP2 (T106I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454385	NM_014320.3(HEBP2):c.561T>A (p.Asn187Lys)	HEBP2 (N198K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401462	NM_014320.3(HEBP2):c.418C>T (p.Arg140Trp)	HEBP2 (R151W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381980	NM_014320.3(HEBP2):c.77A>T (p.Lys26Met)	HEBP2 (K26M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376016	NM_014320.3(HEBP2):c.43G>A (p.Ala15Thr)	HEBP2 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294726	NM_014320.3(HEBP2):c.94G>C (p.Gly32Arg)	HEBP2 (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251721	NM_014320.3(HEBP2):c.609A>C (p.Glu203Asp)	HEBP2 (E203D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242482	NM_014320.3(HEBP2):c.253A>G (p.Met85Val)	HEBP2 (M96V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220685	NM_014320.3(HEBP2):c.149G>T (p.Ser50Ile)	HEBP2 (S61I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1527296	GRCh37/hg19 6q23.3-24.1(chr6:138650501-139046686)	ARFGEF3, HEBP2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 980790	GRCh37/hg19 6q23.3(chr6:138396174-138736943)x3	ARFGEF3, HEBP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 161675	NM_014320.3(HEBP2):c.125A>G (p.His42Arg)	HEBP2 (H42R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 153381	GRCh38/hg38 6q24.1(chr6:138373915-138695098)x1	HEBP2, LOC121132708 +14 more	Copy number loss	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36