"Ambry Genetics"[submitter] AND "CASQ1"[gene] - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 716832	NM_001231.5(CASQ1):c.27C>A (p.Pro9=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1600207	NM_001231.5(CASQ1):c.39G>A (p.Pro13=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1512470	NM_001231.5(CASQ1):c.46C>T (p.Arg16Trp)	CASQ1 (R16W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1560538	NM_001231.5(CASQ1):c.134G>T (p.Gly45Val)	CASQ1 (G45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1371281	NM_001231.5(CASQ1):c.143G>A (p.Arg48His)	CASQ1 (R48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1776115	NM_001231.5(CASQ1):c.159T>C (p.Asn53=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3263465	NM_001231.5(CASQ1):c.189G>C (p.Lys63Asn)	CASQ1 (K63N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785700	NM_001231.5(CASQ1):c.208C>G (p.Leu70Val)	CASQ1 (L70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1354926	NM_001231.5(CASQ1):c.221C>T (p.Pro74Leu)	CASQ1 (P74L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1788582	NM_001231.5(CASQ1):c.225C>T (p.Pro75=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 721560	NM_001231.5(CASQ1):c.226G>A (p.Glu76Lys)	CASQ1 (E76K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1469127	NM_001231.5(CASQ1):c.229G>C (p.Asp77His)	CASQ1 (D77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 728846	NM_001231.5(CASQ1):c.237G>A (p.Lys79=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2410633	NM_001231.5(CASQ1):c.254T>C (p.Phe85Ser)	CASQ1 (F85S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1987355	NM_001231.5(CASQ1):c.319G>A (p.Gly107Arg)	CASQ1 (G107R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2562083	NM_001231.5(CASQ1):c.376G>A (p.Val126Met)	CASQ1 (V126M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1738730	NM_001231.5(CASQ1):c.420C>T (p.Tyr140=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1478953	NM_001231.5(CASQ1):c.443C>T (p.Thr148Ile)	CASQ1 (T148I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1622351	NM_001231.5(CASQ1):c.444C>T (p.Thr148=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 715791	NM_001231.5(CASQ1):c.447C>T (p.Ile149=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2565380	NM_001231.5(CASQ1):c.472G>A (p.Glu158Lys)	CASQ1 (E158K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397771	NM_001231.5(CASQ1):c.476A>G (p.Asp159Gly)	CASQ1 (D159G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1626639	NM_001231.5(CASQ1):c.491T>C (p.Ile164Thr)	CASQ1 (I164T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 725061	NM_001231.5(CASQ1):c.516G>A (p.Ala172=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1486550	NM_001231.5(CASQ1):c.544C>T (p.Leu182Phe)	CASQ1 (L182F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1749361	NM_001231.5(CASQ1):c.573A>G (p.Ser191=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1389336	NM_001231.5(CASQ1):c.574G>C (p.Glu192Gln)	CASQ1 (E192Q)	Single nucleotide variant (missense variant)	Myopathy due to calsequestrin and SERCA1 protein overload +2 more	GUncertain significance
Select item 1750490	NM_001231.5(CASQ1):c.591C>T (p.Phe197=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1750554	NM_001231.5(CASQ1):c.592G>A (p.Glu198Lys)	CASQ1 (E198K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1574098	NM_001231.5(CASQ1):c.657A>G (p.Ala219=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1562378	NM_001231.5(CASQ1):c.660G>T (p.Lys220Asn)	CASQ1 (K220N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3137669	NM_001231.5(CASQ1):c.680A>G (p.Asn227Ser)	CASQ1 (N227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1627438	NM_001231.5(CASQ1):c.696C>T (p.Tyr232=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2461511	NM_001231.5(CASQ1):c.732C>T (p.Asp244=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1618326	NM_001231.5(CASQ1):c.744C>T (p.Ser248=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1347353	NM_001231.5(CASQ1):c.745G>A (p.Glu249Lys)	CASQ1 (E249K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623054	NM_001231.5(CASQ1):c.752A>G (p.Glu251Gly)	CASQ1 (E251G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565379	NM_001231.5(CASQ1):c.762C>T (p.Asn254=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3263463	NM_001231.5(CASQ1):c.775C>T (p.His259Tyr)	CASQ1 (H259Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393680	NM_001231.5(CASQ1):c.806C>T (p.Pro269Leu)	CASQ1 (P269L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1606033	NM_001231.5(CASQ1):c.807G>A (p.Pro269=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3137670	NM_001231.5(CASQ1):c.808G>A (p.Glu270Lys)	CASQ1 (E270K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137671	NM_001231.5(CASQ1):c.838A>G (p.Met280Val)	CASQ1 (M280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764157	NM_001231.5(CASQ1):c.864C>G (p.Phe288Leu)	CASQ1 (F288L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1973079	NM_001231.5(CASQ1):c.866C>T (p.Ala289Val)	CASQ1 (A289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2450719	NM_001231.5(CASQ1):c.897C>A (p.Phe299Leu)	CASQ1 (F299L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1382770	NM_001231.5(CASQ1):c.925G>A (p.Asp309Asn)	CASQ1 (D309N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2621880	NM_001231.5(CASQ1):c.941C>G (p.Pro314Arg)	CASQ1 (P314R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1655125	NM_001231.5(CASQ1):c.978C>T (p.Phe326=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2170929	NM_001231.5(CASQ1):c.1008G>A (p.Thr336=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3137667	NM_001231.5(CASQ1):c.1055C>T (p.Thr352Ile)	CASQ1 (T352I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510878	NM_001231.5(CASQ1):c.1061C>T (p.Ala354Val)	CASQ1 (A354V)	Single nucleotide variant (missense variant)	Myopathy due to calsequestrin and SERCA1 protein overload +2 more	GConflicting classifications of pathogenicity
Select item 1593431	NM_001231.5(CASQ1):c.1068C>T (p.Ser356=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2450718	NM_001231.5(CASQ1):c.1086C>T (p.Asp362=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3263462	NM_001231.5(CASQ1):c.1089T>G (p.Asp363Glu)	CASQ1 (D363E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311967	NM_001231.5(CASQ1):c.1097A>G (p.Asp366Gly)	CASQ1 (D366G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169991	NM_001231.5(CASQ1):c.1163A>G (p.Glu388Gly)	CASQ1 (E388G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2627124	NM_001231.5(CASQ1):c.1168G>A (p.Asp390Asn)	CASQ1 (D390N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 729408	NM_001231.5(CASQ1):c.1185T>C (p.Asp395=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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: 59