HRK[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2348409	NM_003806.4(HRK):c.259G>C (p.Gly87Arg)	HRK, LOC130008875 (G87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384527	NM_003806.4(HRK):c.209C>T (p.Pro70Leu)	HRK, LOC130008875 (P70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403245	NM_003806.4(HRK):c.175G>A (p.Ala59Thr)	HRK (A59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643373	NM_003806.4(HRK):c.168C>T (p.Ser56=)	HRK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3106967	NM_003806.4(HRK):c.146T>A (p.Met49Lys)	HRK (M49K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555006	NM_003806.4(HRK):c.146T>C (p.Met49Thr)	HRK (M49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241042	NM_003806.4(HRK):c.101C>T (p.Ala34Val)	HRK (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106968	NM_003806.4(HRK):c.88G>A (p.Ala30Thr)	HRK (A30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284791	NM_003806.4(HRK):c.86C>G (p.Ala29Gly)	HRK (A29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251441	NM_003806.4(HRK):c.17T>C (p.Leu6Pro)	HRK (L6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284792	NM_003806.4(HRK):c.13C>T (p.Pro5Ser)	HRK (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527739	GRCh37/hg19 12q24.22(chr12:116869761-117330856)	HRK, MAP1LC3B2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 815560	GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4	FBXO21, SPRING1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563968	GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1	NOS1, TESC +6 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28