CKM[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 784717	NM_001824.5(CKM):c.1144T>C (p.Ter382Gln)	CKM	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 2621680	NM_001824.5(CKM):c.1122C>A (p.Asp374Glu)	CKM (D374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253469	NM_001824.5(CKM):c.1090G>C (p.Glu364Gln)	CKM (E364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260347	NM_001824.5(CKM):c.1067G>A (p.Gly356Asp)	CKM (G356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480284	NM_001824.5(CKM):c.1007T>C (p.Val336Ala)	CKM (V336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267488	NM_001824.5(CKM):c.997G>T (p.Val333Leu)	CKM (V333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145256	NM_001824.5(CKM):c.800C>T (p.Ala267Val)	CKM (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603751	NM_001824.5(CKM):c.800C>A (p.Ala267Asp)	CKM (A267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710253	NM_001824.5(CKM):c.752G>C (p.Arg251Pro)	CKM (R251P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2271999	NM_001824.5(CKM):c.731G>A (p.Gly244Asp)	CKM (G244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523724	NM_001824.5(CKM):c.650T>A (p.Ile217Asn)	CKM (I217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145255	NM_001824.5(CKM):c.644G>A (p.Arg215His)	CKM (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395784	NM_001824.5(CKM):c.626G>A (p.Arg209His)	CKM (R209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233909	NM_001824.5(CKM):c.490A>G (p.Ser164Gly)	CKM (S164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624202	NM_001824.5(CKM):c.469C>T (p.Leu157Phe)	CKM (L157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600838	NM_001824.5(CKM):c.455G>A (p.Arg152Gln)	CKM (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473695	NM_001824.5(CKM):c.443G>T (p.Arg148Leu)	CKM (R148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267487	NM_001824.5(CKM):c.421A>C (p.Thr141Pro)	CKM (T141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569251	NM_001824.5(CKM):c.404G>A (p.Arg135His)	CKM (R135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208736	NM_001824.5(CKM):c.391G>A (p.Val131Ile)	CKM (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808597	NM_001824.5(CKM):c.379C>G (p.Leu127Val)	CKM (L127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721646	NM_001824.5(CKM):c.349-9G>A	CKM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3267486	NM_001824.5(CKM):c.312C>G (p.Asp104Glu)	CKM (D104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263426	NM_001824.5(CKM):c.296G>A (p.Gly99Asp)	CKM (G99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145253	NM_001824.5(CKM):c.292G>A (p.Gly98Arg)	CKM (G98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688787	NM_001824.5(CKM):c.271C>T (p.Pro91Ser)	CKM (P91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305147	NM_001824.5(CKM):c.104C>A (p.Thr35Asn)	CKM (T35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353006	NM_001824.5(CKM):c.82A>C (p.Asn28His)	CKM (N28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650098	NM_001824.5(CKM):c.63C>T (p.Pro21=)	CKM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299609	NM_001824.5(CKM):c.31A>G (p.Lys11Glu)	CKM (K11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816086	GRCh37/hg19 19q13.32(chr19:45765313-45968157)x3	ERCC1, PPP1R13L +5 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 687584	GRCh37/hg19 19q13.32(chr19:45768506-45872300)x3	CKM, ERCC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 684883	GRCh37/hg19 19q13.32(chr19:45780213-45850377)x3	CKM, KLC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 43