"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MACROD2"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932377	NM_198391.3(FLRT3):c.1829T>C (p.Val610Ala)	FLRT3, MACROD2 (V610A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317710	NM_198391.3(FLRT3):c.1134A>C (p.Gln378His)	FLRT3, MACROD2 (Q378H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 235238	NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr)	FLRT3, MACROD2 (A377T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3025980	NM_198391.3(FLRT3):c.992G>A (p.Gly331Glu)	FLRT3, MACROD2 (G331E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 747121	NM_198391.3(FLRT3):c.738C>A (p.Gly246=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652208	NM_198391.3(FLRT3):c.363T>C (p.Tyr121=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2652209	NM_001351661.2(MACROD2):c.1311A>G (p.Gln437=)	MACROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 624487	GRCh37/hg19 20p12.1(chr20:14721866-14849560)x1	MACROD2	Copy number loss	not provided	GLikely benign