TMEM132D-AS2[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 147998	GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3	GLT1D1, LINC00507 +43 more	Copy number gain	See cases	GUncertain significance
Select item 151149	GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3	GLT1D1, LOC100128276 +30 more	Copy number gain	See cases	GUncertain significance
Select item 3034662	NM_133448.3(TMEM132D):c.1443+6T>C	TMEM132D, TMEM132D-AS2	Single nucleotide variant (intron variant)	TMEM132D-related disorder	GLikely benign
Select item 2590359	NM_133448.3(TMEM132D):c.1435G>A (p.Val479Met)	TMEM132D, TMEM132D-AS2 (V479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715033	NM_133448.3(TMEM132D):c.1434C>T (p.Asp478=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510888	NM_133448.3(TMEM132D):c.1400T>C (p.Leu467Pro)	TMEM132D, TMEM132D-AS2 (L467P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407047	NM_133448.3(TMEM132D):c.1381G>A (p.Gly461Ser)	TMEM132D, TMEM132D-AS2 (G461S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3040955	NM_133448.3(TMEM132D):c.1353G>A (p.Pro451=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM132D-related disorder	GLikely benign
Select item 3178742	NM_133448.3(TMEM132D):c.1331C>T (p.Thr444Met)	TMEM132D, TMEM132D-AS2 (T444M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 787103	NM_133448.3(TMEM132D):c.1302G>A (p.Glu434=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign