ClinVar for Gene (Select 28977) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207882	NM_014050.4(MRPL42):c.164G>A (p.Gly55Asp)	MRPL42 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207873	NM_014050.4(MRPL42):c.139G>A (p.Val47Ile)	MRPL42 (V47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612392	NM_014050.4(MRPL42):c.418A>G (p.Lys140Glu)	MRPL42 (K140E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594319	NM_014050.4(MRPL42):c.104C>T (p.Thr35Met)	MRPL42 (T35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523823	NM_014050.4(MRPL42):c.245A>G (p.His82Arg)	MRPL42 (H82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398291	NM_014050.4(MRPL42):c.160G>C (p.Asp54His)	MRPL42 (D54H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297199	NM_014050.4(MRPL42):c.241G>A (p.Val81Met)	MRPL42 (V81M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278981	NM_014050.4(MRPL42):c.71A>G (p.Asn24Ser)	MRPL42 (N24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272983	NM_014050.4(MRPL42):c.404A>T (p.Asn135Ile)	MRPL42 (N135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238262	NM_014050.4(MRPL42):c.397C>T (p.Arg133Cys)	MRPL42 (R133C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	CEP83, CRADD +49 more	Copy number gain	See cases	GUncertain significance