1158[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43