HYPK[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2326536	NM_016400.4(HYPK):c.-18C>T	HYPK, SERF2-C15ORF63 (R3W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2325245	NM_016400.4(HYPK):c.-17G>A	HYPK, SERF2-C15ORF63 (R3Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3107762	NM_016400.4(HYPK):c.-11G>A	HYPK, SERF2-C15ORF63 (G5D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2541089	NM_016400.4(HYPK):c.12G>C (p.Glu4Asp)	HYPK, SERF2-C15ORF63 (E12D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555960	NM_016400.4(HYPK):c.13G>A (p.Gly5Arg)	HYPK, SERF2-C15ORF63 (G13R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107763	NM_016400.4(HYPK):c.19G>A (p.Val7Met)	HYPK, SERF2-C15ORF63 (V15M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 714533	NM_016400.4(HYPK):c.36G>A (p.Glu12=)	HYPK, SERF2-C15ORF63	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3107765	NM_016400.4(HYPK):c.44C>T (p.Thr15Ile)	HYPK, SERF2-C15ORF63 (T15I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 714534	NM_016400.4(HYPK):c.261G>A (p.Leu87=)	HYPK, SERF2-C15ORF63 (G77R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2369662	NM_016400.4(HYPK):c.271A>G (p.Met91Val)	HYPK, SERF2-C15ORF63 (M91V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 730909	NM_016400.4(HYPK):c.276T>C (p.Thr92=)	HYPK, SERF2-C15ORF63	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	ELL3, FRMD5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 27