GZMA[gene] - ClinVar

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Items: 32

	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	LINC02057, LINC02101 +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 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2609171	NM_006144.4(GZMA):c.46G>T (p.Val16Phe)	GZMA (V16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393788	NM_006144.4(GZMA):c.71A>T (p.Asp24Val)	GZMA (D24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283218	NM_006144.4(GZMA):c.116C>T (p.Ser39Leu)	GZMA (S39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341659	NM_006144.4(GZMA):c.190G>A (p.Val64Met)	GZMA (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283221	NM_006144.4(GZMA):c.338G>A (p.Gly113Asp)	GZMA (G113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283220	NM_006144.4(GZMA):c.375A>C (p.Lys125Asn)	GZMA (K125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283223	NM_006144.4(GZMA):c.477T>G (p.Ser159Arg)	GZMA (S159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304112	NM_006144.4(GZMA):c.518T>C (p.Ile173Thr)	GZMA (I173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209421	NM_006144.4(GZMA):c.533T>C (p.Val178Ala)	GZMA (V178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380477	NM_006144.4(GZMA):c.545G>A (p.Arg182Gln)	GZMA (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564999	NM_006144.4(GZMA):c.578T>C (p.Met193Thr)	GZMA (M193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786056	NM_006144.4(GZMA):c.583A>G (p.Met195Val)	GZMA (M195V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283224	NM_006144.4(GZMA):c.605G>A (p.Arg202Gln)	GZMA (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290478	NM_006144.4(GZMA):c.641G>A (p.Ser214Asn)	GZMA (S214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103405	NM_006144.4(GZMA):c.725T>C (p.Val242Ala)	GZMA (V242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283219	NM_006144.4(GZMA):c.755A>G (p.Asn252Ser)	GZMA (N252S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409852	NM_006144.4(GZMA):c.779G>T (p.Gly260Val)	GZMA (G260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283217	NM_006144.4(GZMA):c.784G>A (p.Val262Ile)	GZMA (V262I)	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: 32