2454[HGNC] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 3078279	NM_022048.5(CSNK1G1):c.1259G>A (p.Arg420His)	CSNK1G1 (R420H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078278	NM_022048.5(CSNK1G1):c.1189G>A (p.Glu397Lys)	CSNK1G1 (E397K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494650	NM_022048.5(CSNK1G1):c.1109T>C (p.Val370Ala)	CSNK1G1 (V407A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078277	NM_022048.5(CSNK1G1):c.1108G>A (p.Val370Met)	CSNK1G1 (V370M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465327	NM_022048.5(CSNK1G1):c.1100G>A (p.Arg367Gln)	CSNK1G1 (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078276	NM_022048.5(CSNK1G1):c.1045A>G (p.Ile349Val)	CSNK1G1 (I349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645442	NM_022048.5(CSNK1G1):c.985G>A (p.Val329Ile)	CSNK1G1 (V329I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078285	NM_022048.5(CSNK1G1):c.931T>C (p.Phe311Leu)	CSNK1G1 (F311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078284	NM_022048.5(CSNK1G1):c.767C>G (p.Ala256Gly)	CSNK1G1 (A256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 140459	NM_022048.5(CSNK1G1):c.688C>T (p.Arg230Trp)	CSNK1G1 (R230W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140174	NM_022048.5(CSNK1G1):c.587A>G (p.Asp196Gly)	CSNK1G1 (D196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555132	NM_022048.5(CSNK1G1):c.553A>G (p.Ile185Val)	CSNK1G1 (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078282	NM_022048.5(CSNK1G1):c.521G>C (p.Arg174Pro)	CSNK1G1 (R174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335185	NM_022048.5(CSNK1G1):c.520C>T (p.Arg174Ter)	CSNK1G1 (R174*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2370269	NM_022048.5(CSNK1G1):c.515T>C (p.Ile172Thr)	CSNK1G1 (I172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678269	NM_022048.5(CSNK1G1):c.488G>T (p.Arg163Leu)	CSNK1G1 (R163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554971	NM_022048.5(CSNK1G1):c.440A>G (p.Gln147Arg)	CSNK1G1 (Q147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341763	NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)	CSNK1G1 (P123R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2365331	NM_022048.5(CSNK1G1):c.314A>G (p.Tyr105Cys)	CSNK1G1 (Y105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269884	NM_022048.5(CSNK1G1):c.206A>G (p.Tyr69Cys)	CSNK1G1 (Y69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078280	NM_022048.5(CSNK1G1):c.200A>G (p.Asn67Ser)	CSNK1G1 (N67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489264	NM_022048.5(CSNK1G1):c.190C>T (p.Leu64Phe)	CSNK1G1 (L64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024910	NM_022048.5(CSNK1G1):c.96A>G (p.Ser32=)	CSNK1G1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686606	NM_022048.5(CSNK1G1):c.80G>A (p.Arg27Gln)	CSNK1G1 (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262292	NM_022048.5(CSNK1G1):c.79C>G (p.Arg27Gly)	CSNK1G1 (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078281	NM_022048.5(CSNK1G1):c.43A>C (p.Thr15Pro)	CSNK1G1 (T15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815729	GRCh37/hg19 15q22.31(chr15:64644933-64736092)x1	TRIP4, PCLAF +1 more	Copy number loss	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	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: 38