TMEM50A[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +12 more	Copy number loss	See cases	GUncertain significance
Select item 17711	NC_000001.11:g.(25258851_25268086)_(25329003_25338415)del	LOC133206433, LOC133206434 +5 more	Deletion	RHD-NEGATIVE POLYMORPHISM	GBenign
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +30 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 2369800	NM_014313.4(TMEM50A):c.47G>T (p.Trp16Leu)	TMEM50A (W16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327121	NM_014313.4(TMEM50A):c.68T>C (p.Ile23Thr)	TMEM50A (I23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342668	NM_014313.4(TMEM50A):c.281G>A (p.Arg94His)	TMEM50A (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346350	NM_014313.4(TMEM50A):c.340A>G (p.Ile114Val)	TMEM50A (I114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1807901	GRCh37/hg19 1p36.11(chr1:25502292-25753638)x3	RHCE, RHD +3 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 547150	GRCh37/hg19 1p36.11(chr1:25609449-25777511)x3	RHD, TMEM50A +2 more	Copy number gain	not provided	GLikely benign
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 394626	GRCh37/hg19 1p36.11(chr1:25611203-25688876)x3	RHCE, RHD +1 more	Copy number gain	See cases	GBenign