ClinVar for Gene (Select 53944) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3078282	NM_022048.5(CSNK1G1):c.521G>C (p.Arg174Pro)	CSNK1G1 (R174P)	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 3078280	NM_022048.5(CSNK1G1):c.200A>G (p.Asn67Ser)	CSNK1G1 (N67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3078276	NM_022048.5(CSNK1G1):c.1045A>G (p.Ile349Val)	CSNK1G1 (I349V)	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 2645442	NM_022048.5(CSNK1G1):c.985G>A (p.Val329Ile)	CSNK1G1 (V329I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2554971	NM_022048.5(CSNK1G1):c.440A>G (p.Gln147Arg)	CSNK1G1 (Q147R)	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 2489264	NM_022048.5(CSNK1G1):c.190C>T (p.Leu64Phe)	CSNK1G1 (L64F)	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 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
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 2365331	NM_022048.5(CSNK1G1):c.314A>G (p.Tyr105Cys)	CSNK1G1 (Y105C)	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 2140174	NM_022048.5(CSNK1G1):c.587A>G (p.Asp196Gly)	CSNK1G1 (D196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1678269	NM_022048.5(CSNK1G1):c.488G>T (p.Arg163Leu)	CSNK1G1 (R163L)	Single nucleotide variant (missense variant)	not provided	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 1335185	NM_022048.5(CSNK1G1):c.520C>T (p.Arg174Ter)	CSNK1G1 (R174*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +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
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 140459	NM_022048.5(CSNK1G1):c.688C>T (p.Arg230Trp)	CSNK1G1 (R230W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 38