LOC130006327[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1188591	NM_001567.4(INPPL1):c.-74G>C	INPPL1, LOC130006327	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 242401	NM_001567.4(INPPL1):c.24_39del (p.Gly9fs)	INPPL1, LOC130006327 (G9fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 1379744	NM_001567.4(INPPL1):c.26G>A (p.Gly9Asp)	INPPL1, LOC130006327 (G9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242400	NM_001567.4(INPPL1):c.35dup (p.Ala13fs)	INPPL1, LOC130006327 (A13fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2780069	NM_001567.4(INPPL1):c.33G>A (p.Gly11=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101041	NM_001567.4(INPPL1):c.36C>A (p.Gly12=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643960	NM_001567.4(INPPL1):c.45C>T (p.Gly15=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974276	NM_001567.4(INPPL1):c.47G>A (p.Ser16Asn)	INPPL1, LOC130006327 (S16N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545584	NM_001567.4(INPPL1):c.48C>T (p.Ser16=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235822	NM_001567.3(INPPL1):c.[24_39del16;753G>C]	INPPL1, LOC130006327 (Q251H +1 more)	Single nucleotide variant (missense variant +1 more)	Opsismodysplasia	GPathogenic
Select item 235823	NM_001567.3(INPPL1):c.[1687_1691delACCTC;35dupG]	INPPL1, LOC130006327 (T563fs +1 more)	Microsatellite (frameshift variant)	Opsismodysplasia	GPathogenic