GZMK[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 2489713	NM_002104.3(GZMK):c.86G>A (p.Gly29Glu)	GZMK (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264551	NM_002104.3(GZMK):c.152T>C (p.Val51Ala)	GZMK (V51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536670	NM_002104.3(GZMK):c.161G>T (p.Gly54Val)	GZMK (G54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 3103415	NM_002104.3(GZMK):c.319A>G (p.Arg107Gly)	GZMK (R107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459366	NM_002104.3(GZMK):c.443A>G (p.Lys148Arg)	GZMK (K148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337554	NM_002104.3(GZMK):c.589A>C (p.Met197Leu)	GZMK (M197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103416	NM_002104.3(GZMK):c.676G>A (p.Ala226Thr)	GZMK (A226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484478	NM_002104.3(GZMK):c.716A>C (p.Lys239Thr)	GZMK (K239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405174	NM_002104.3(GZMK):c.727T>C (p.Tyr243His)	GZMK (Y243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526318	NM_002104.3(GZMK):c.749A>G (p.Tyr250Cys)	GZMK (Y250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103417	NM_002104.3(GZMK):c.769A>G (p.Asn257Asp)	GZMK (N257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 25