"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AIFM3"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652925	NM_001386814.1(AIFM3):c.951C>T (p.Ile317=)	AIFM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024620	GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	PI4KA, PRODH +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	CLDN5, CLTCL1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	P2RX6, PI4KA +45 more	Copy number gain	not provided	GPathogenic
Select item 1701448	GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1	AIFM3, CCDC116 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	COMT, FAM230A +45 more	Copy number loss	not provided	GPathogenic