ClinVar for Gene (Select 1511) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270221	NM_001911.3(CTSG):c.346A>G (p.Arg116Gly)	CTSG (R116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078776	NM_001911.3(CTSG):c.428C>G (p.Thr143Ser)	CTSG (T143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078775	NM_001911.3(CTSG):c.369C>A (p.Asn123Lys)	CTSG (N123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078774	NM_001911.3(CTSG):c.224G>A (p.Gly75Asp)	CTSG (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078773	NM_001911.3(CTSG):c.193T>G (p.Cys65Gly)	CTSG (C65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2601060	NM_001911.3(CTSG):c.251A>C (p.Asn84Thr)	CTSG (N84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597697	NM_001911.3(CTSG):c.171C>G (p.Asp57Glu)	CTSG (D57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545200	NM_001911.3(CTSG):c.461G>A (p.Arg154Lys)	CTSG (R154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496506	NM_001911.3(CTSG):c.463G>C (p.Gly155Arg)	CTSG (G155R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2383929	NM_001911.3(CTSG):c.751A>G (p.Met251Val)	CTSG (M251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375737	NM_001911.3(CTSG):c.758C>G (p.Thr253Ser)	CTSG (T253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322541	NM_001911.3(CTSG):c.626A>G (p.Asn209Ser)	CTSG (N209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315753	NM_001911.3(CTSG):c.91T>G (p.Ser31Ala)	CTSG (S31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229050	NM_001911.3(CTSG):c.58G>A (p.Glu20Lys)	CTSG (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209838	NM_001911.3(CTSG):c.336G>T (p.Leu112Phe)	CTSG (L112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 783685	NM_001911.3(CTSG):c.528C>T (p.Phe176=)	CTSG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776828	NM_001911.3(CTSG):c.44G>C (p.Gly15Ala)	CTSG (G15A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776827	NM_001911.3(CTSG):c.269C>T (p.Thr90Ile)	CTSG (T90I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441871	GRCh37/hg19 14q12(chr14:24917041-25611546)x3	CMA1, CTSG +3 more	Copy number gain	See cases	GUncertain significance
Select item 402574	NM_001911.3(CTSG):c.374A>G (p.Asn125Ser)	CTSG (N125S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43