GK2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	GRSF1, LOC126807079 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 156922	NM_033214.2(GK2):c.-269359_*167228dup	GK2, LINC00989 +2 more	Duplication	Normal pregnancy	Gnot provided
Select item 2401916	NM_033214.3(GK2):c.1606A>T (p.Ile536Leu)	GK2 (I536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100027	NM_033214.3(GK2):c.1524G>A (p.Met508Ile)	GK2 (M508I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100026	NM_033214.3(GK2):c.1505C>T (p.Thr502Ile)	GK2 (T502I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324881	NM_033214.3(GK2):c.1504A>G (p.Thr502Ala)	GK2 (T502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214311	NM_033214.3(GK2):c.1469A>G (p.Gln490Arg)	GK2 (Q490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325382	NM_033214.3(GK2):c.1452G>A (p.Met484Ile)	GK2 (M484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731752	NM_033214.3(GK2):c.1213C>T (p.Arg405Ter)	GK2 (R405*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2227485	NM_033214.3(GK2):c.1171C>T (p.His391Tyr)	GK2 (H391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347192	NM_033214.3(GK2):c.1167A>T (p.Lys389Asn)	GK2 (K389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301969	NM_033214.3(GK2):c.989G>A (p.Arg330His)	GK2 (R330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100032	NM_033214.3(GK2):c.921A>T (p.Lys307Asn)	GK2 (K307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514120	NM_033214.3(GK2):c.799C>A (p.Gln267Lys)	GK2 (Q267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556726	NM_033214.3(GK2):c.751G>A (p.Val251Met)	GK2 (V251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512165	NM_033214.3(GK2):c.533T>C (p.Ile178Thr)	GK2 (I178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100031	NM_033214.3(GK2):c.490G>C (p.Val164Leu)	GK2 (V164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100030	NM_033214.3(GK2):c.463C>G (p.Arg155Gly)	GK2 (R155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278307	NM_033214.3(GK2):c.447C>G (p.Phe149Leu)	GK2 (F149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394422	NM_033214.3(GK2):c.416C>T (p.Ser139Phe)	GK2 (S139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338281	NM_033214.3(GK2):c.377T>C (p.Leu126Pro)	GK2 (L126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365190	NM_033214.3(GK2):c.272G>A (p.Ser91Asn)	GK2 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100029	NM_033214.3(GK2):c.248C>T (p.Ser83Phe)	GK2 (S83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100028	NM_033214.3(GK2):c.227A>G (p.Asp76Gly)	GK2 (D76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255701	NM_033214.3(GK2):c.205G>A (p.Ala69Thr)	GK2 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512164	NM_033214.3(GK2):c.100G>A (p.Glu34Lys)	GK2 (E34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062791	GRCh37/hg19 4q21.21(chr4:79086702-80588739)x1	ANXA3, BMP2K +4 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562935	GRCh37/hg19 4q21.21(chr4:79256988-81081299)x1	BMP2K, ANXA3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 442547	GRCh37/hg19 4q21.21(chr4:80212923-80518968)x1	GK2, NAA11	Copy number loss	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 221805	GRCh37/hg19 4q21.21(chr4:80179372-80566060)x3	GK2, NAA11	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 48