ClinVar for MedGen (Select 5530) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338847	GRCh38/hg38 7q21.13(chr7:89998146-90352986)	GTPBP10, LOC101927446 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338846	GRCh38/hg38 13q13.3(chr13:38940342-39433293)	LHFPL6, LOC105370169 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338845	GRCh38/hg38 Yq11.221(chrY:14071214-14175405)		Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338844	GRCh38/hg38 5p12(chr5:42502606-42696476)	GHR, LOC107963949	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338842	GRCh38/hg38 7p21.3(chr7:10609869-11290301)	LOC100131472, LOC110120772 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338841	GRCh38/hg38 6p21.31(chr6:34587317-34856828)	BLTP3A, ILRUN +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338840	GRCh38/hg38 Xq25(chrX:124702470-124997671)	TENM1	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338838	GRCh38/hg38 8p22(chr8:13396389-13807983)	C8orf48, DLC1 +2 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338837	GRCh38/hg38 Xp22.2(chrX:11240104-11903527)	LOC125446271, LOC130067939 +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338836	GRCh38/hg38 7q35(chr7:146062109-146215075)	CNTNAP2	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338835	GRCh38/hg38 12q24.33(chr12:132804406-132944910)	LOC126861701, LOC130009274 +13 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338834	GRCh38/hg38 8p22(chr8:13974643-14229824)	LOC132089565, LOC132089566 +14 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338831	GRCh38/hg38 17q23.2(chr17:61778623-62006540)	BRIP1, INTS2 +5 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +51 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338829	GRCh38/hg38 Xq21.1(chrX:77914739-77914775)	ATP7A	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338828	GRCh38/hg38 17q21.31(chr17:46130641-46273757)	KANSL1, KANSL1-AS1 +2 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338827	GRCh38/hg38 15q13.2(chr15:30097840-30527284)	CHRFAM7A, GOLGA8R +3 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1338826	GRCh38/hg38 6p25.3(chr6:259345-293593)	DUSP22, LOC129995536 +2 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338825	GRCh38/hg38 4p16.3(chr4:59690-133521)	LOC129991944, LOC129991945 +3 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1338824	GRCh38/hg38 3q28(chr3:188671476-188811213)	LOC129938140, LPP +1 more	Copy number loss	Diaphragmatic hernia	GUncertain significance

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Items: 23