ClinVar for Gene (Select 117145) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325887	NM_053055.5(THEM4):c.411A>C (p.Leu137Phe)	THEM4 (L137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325886	NM_053055.5(THEM4):c.95A>T (p.Glu32Val)	LOC129931451, THEM4 (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177018	NM_053055.5(THEM4):c.370G>A (p.Val124Met)	THEM4 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177016	NM_053055.5(THEM4):c.119A>G (p.Glu40Gly)	THEM4 (E40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2639184	NM_053055.5(THEM4):c.489T>C (p.Thr163=)	THEM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639183	NM_053055.5(THEM4):c.678G>A (p.Ala226=)	THEM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617247	NM_053055.5(THEM4):c.562A>G (p.Ile188Val)	THEM4 (I188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2554528	NM_053055.5(THEM4):c.608T>C (p.Val203Ala)	THEM4 (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548735	NM_053055.5(THEM4):c.212G>A (p.Gly71Asp)	THEM4 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493381	NM_053055.5(THEM4):c.224G>A (p.Arg75His)	THEM4 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486889	NM_053055.5(THEM4):c.604A>G (p.Lys202Glu)	THEM4 (K202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425291	NC_000001.10:g.(?_151801885)_(152287932_?)dup	C2CD4D, FLG +9 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2378659	NM_053055.5(THEM4):c.85C>T (p.Pro29Ser)	LOC129931451, THEM4 (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351245	NM_053055.5(THEM4):c.10A>G (p.Ser4Gly)	LOC129931451, THEM4 (S4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330023	NM_053055.5(THEM4):c.156C>G (p.Ser52Arg)	THEM4 (S52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322530	NM_053055.5(THEM4):c.82G>A (p.Glu28Lys)	LOC129931451, THEM4 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292733	NM_053055.5(THEM4):c.560C>T (p.Pro187Leu)	THEM4 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256400	NM_053055.5(THEM4):c.139T>G (p.Ser47Ala)	THEM4 (S47A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210474	NM_053055.5(THEM4):c.11G>C (p.Ser4Thr)	LOC129931451, THEM4 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814126	GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3	S100A11, FLG +9 more	Copy number gain	not provided	GUncertain significance
Select item 772815	NM_053055.5(THEM4):c.294G>C (p.Lys98Asn)	THEM4 (K98N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770328	NM_053055.5(THEM4):c.242G>A (p.Arg81His)	THEM4 (R81H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685455	GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3	FLG, HRNR +6 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	CCDST, HRNR +23 more	Copy number loss	See cases	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34