"GeneDx"[submitter] AND "LOC126806147"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 1227625	NM_001349206.2(LPIN1):c.831-147G>A	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392031	NM_001349206.2(LPIN1):c.842C>A (p.Ser281Tyr)	LOC126806147, LPIN1 (S245Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 893247	NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)	LOC126806147, LPIN1 (T255K +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1419330	NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val)	LOC126806147, LPIN1 (L280V +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1304334	NM_001349206.2(LPIN1):c.928C>T (p.Leu310=)	LPIN1, LOC126806147	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1723557	NM_001349206.2(LPIN1):c.957+6_957+7del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1191200	NM_001349206.2(LPIN1):c.957+130G>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212702	NM_001349206.2(LPIN1):c.957+222C>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207078	NM_001349206.2(LPIN1):c.957+250dup	LOC126806147, LPIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1249744	NM_001349206.2(LPIN1):c.957+250del	LOC126806147, LPIN1	Deletion (intron variant)	not provided	GBenign
Select item 1181940	NM_001349206.2(LPIN1):c.957+249T>G	LPIN1, LOC126806147	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280115	NM_001349206.2(LPIN1):c.957+256_957+257del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GBenign