ClinVar for Gene (Select 2999) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283236	NM_033423.5(GZMH):c.578A>C (p.Lys193Thr)	GZMH (K193T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283235	NM_033423.5(GZMH):c.226G>T (p.Ala76Ser)	GZMH (A76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283234	NM_033423.5(GZMH):c.217A>G (p.Thr73Ala)	GZMH (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283233	NM_033423.5(GZMH):c.733C>T (p.Arg245Cys)	GZMH (R245C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283232	NM_033423.5(GZMH):c.395G>A (p.Ser132Asn)	GZMH (S132N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103414	NM_033423.5(GZMH):c.734G>A (p.Arg245His)	GZMH (R181H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103412	NM_033423.5(GZMH):c.373C>T (p.Arg125Trp)	GZMH (R125W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103411	NM_033423.5(GZMH):c.344A>G (p.Glu115Gly)	GZMH (E115G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103410	NM_033423.5(GZMH):c.236T>C (p.Ile79Thr)	GZMH (I79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103409	NM_033423.5(GZMH):c.221T>G (p.Leu74Trp)	GZMH (L74W)	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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2372916	NM_033423.5(GZMH):c.475C>G (p.Leu159Val)	GZMH (L159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364845	NM_033423.5(GZMH):c.550A>C (p.Thr184Pro)	GZMH (T184P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358078	NM_033423.5(GZMH):c.154A>G (p.Ile52Val)	GZMH (I52V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337991	NM_033423.5(GZMH):c.391A>G (p.Ser131Gly)	GZMH (S131G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337877	NM_033423.5(GZMH):c.223G>A (p.Gly75Arg)	GZMH (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251720	NM_033423.5(GZMH):c.730A>G (p.Lys244Glu)	GZMH (K244E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233060	NM_033423.5(GZMH):c.322G>A (p.Asp108Asn)	GZMH (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228762	NM_033423.5(GZMH):c.520C>T (p.Arg174Cys)	GZMH (R174C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224455	NM_033423.5(GZMH):c.151G>A (p.Gly51Ser)	GZMH (G51S)	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 779654	NM_033423.5(GZMH):c.740A>T (p.Ter247Leu)	GZMH	Single nucleotide variant (stop lost)	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 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: 44