ClinVar for Gene (Select 285556) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025138	NM_001354435.2(C4orf54):c.930T>A (p.Gly310=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2654978	NM_001354435.2(C4orf54):c.15T>A (p.His5Gln)	C4orf54 (H5Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654977	NM_001354435.2(C4orf54):c.384C>T (p.Ser128=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654976	NM_001354435.2(C4orf54):c.916G>T (p.Glu306Ter)	C4orf54 (E306*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2654975	NM_001354435.2(C4orf54):c.1494G>A (p.Pro498=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654974	NM_001354435.2(C4orf54):c.1962C>A (p.Ser654=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654973	NM_001354435.2(C4orf54):c.2475C>T (p.His825=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654972	NM_001354435.2(C4orf54):c.2623G>C (p.Glu875Gln)	C4orf54 (E875Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654971	NM_001354435.2(C4orf54):c.3903G>A (p.Gly1301=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654970	NM_001354435.2(C4orf54):c.4244T>C (p.Phe1415Ser)	C4orf54 (F1415S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654969	NM_001354435.2(C4orf54):c.4710G>A (p.Gln1570=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654968	NM_001354435.2(C4orf54):c.4829G>A (p.Arg1610His)	C4orf54 (R1610H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2571211	NM_001354435.2(C4orf54):c.5153C>T (p.Ala1718Val)	C4orf54 (A1718V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498956	NM_001354435.2(C4orf54):c.1841G>T (p.Ser614Ile)	C4orf54 (S614I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879611	NM_001354435.2(C4orf54):c.4205C>A (p.Ala1402Asp)	C4orf54 (A1402D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1695100	NM_001354435.2(C4orf54):c.1518C>T (p.Ala506=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695099	NM_001354435.2(C4orf54):c.2856C>G (p.Ala952=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675950	NM_001354435.2(C4orf54):c.568C>A (p.Arg190=)	C4orf54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 22