HEMK1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2209385	NM_016173.5(HEMK1):c.17G>A (p.Arg6Gln)	C3orf18, HEMK1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343235	NM_016173.5(HEMK1):c.65G>A (p.Arg22Gln)	C3orf18, HEMK1 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3105229	NM_016173.5(HEMK1):c.110G>A (p.Gly37Glu)	C3orf18, HEMK1 (G37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205222	NM_016173.5(HEMK1):c.202G>A (p.Val68Met)	C3orf18, HEMK1 (V68M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3284006	NM_016173.5(HEMK1):c.226A>G (p.Thr76Ala)	C3orf18, HEMK1 (T76A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105230	NM_016173.5(HEMK1):c.245C>T (p.Pro82Leu)	C3orf18, HEMK1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464090	NM_016173.5(HEMK1):c.262C>G (p.Pro88Ala)	C3orf18, HEMK1 (P88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287664	NM_016173.5(HEMK1):c.272C>T (p.Ser91Phe)	C3orf18, HEMK1 (S91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105231	NM_016173.5(HEMK1):c.307C>T (p.Arg103Cys)	C3orf18, HEMK1 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105232	NM_016173.5(HEMK1):c.308G>A (p.Arg103His)	C3orf18, HEMK1 (R103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381041	NM_016173.5(HEMK1):c.400C>T (p.Arg134Trp)	C3orf18, HEMK1 (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284009	NM_016173.5(HEMK1):c.421G>A (p.Val141Ile)	HEMK1 (V34I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400870	NM_016173.5(HEMK1):c.455C>T (p.Ser152Phe)	HEMK1 (S152F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284010	NM_016173.5(HEMK1):c.517A>G (p.Ile173Val)	HEMK1 (I173V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284004	NM_016173.5(HEMK1):c.574C>T (p.Arg192Trp)	HEMK1 (R192W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105233	NM_016173.5(HEMK1):c.601G>A (p.Glu201Lys)	HEMK1 (E201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284008	NM_016173.5(HEMK1):c.646C>T (p.His216Tyr)	HEMK1 (H109Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375049	NM_016173.5(HEMK1):c.766C>T (p.Arg256Cys)	HEMK1 (R149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634505	NM_016173.5(HEMK1):c.770+2T>C	HEMK1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3284007	NM_016173.5(HEMK1):c.780C>G (p.Asp260Glu)	HEMK1 (D153E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468242	NM_016173.5(HEMK1):c.784G>A (p.Ala262Thr)	HEMK1 (A155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555153	NM_016173.5(HEMK1):c.785C>T (p.Ala262Val)	HEMK1 (A155V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105234	NM_016173.5(HEMK1):c.815A>G (p.Asp272Gly)	HEMK1 (D272G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281035	NM_016173.5(HEMK1):c.824C>A (p.Thr275Asn)	HEMK1 (T168N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489716	NM_016173.5(HEMK1):c.847C>T (p.Arg283Trp)	HEMK1 (R283W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105235	NM_016173.5(HEMK1):c.848G>A (p.Arg283Gln)	HEMK1 (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378152	NM_016173.5(HEMK1):c.899C>T (p.Pro300Leu)	HEMK1 (P299L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105236	NM_016173.5(HEMK1):c.950T>C (p.Leu317Pro)	HEMK1 (L317P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105237	NM_016173.5(HEMK1):c.952G>A (p.Val318Met)	HEMK1 (V317M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105238	NM_016173.5(HEMK1):c.981G>T (p.Arg327Ser)	HEMK1 (R326S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1511582	NC_000003.11:g.(?_50540629)_(50655235_?)dup	C3orf18, CACNA2D2 +3 more	Duplication	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	HYAL1, HYAL2 +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1432141	NC_000003.11:g.(?_50431520)_(50685477_?)dup	C3orf18, CACNA2D2 +3 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 562768	GRCh37/hg19 3p21.31-21.2(chr3:50435928-50732729)x3	CISH, DOCK3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 40