ClinVar for MedGen (Select 140927) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234870	NM_001567.4(INPPL1):c.3461C>G (p.Pro1154Arg)	INPPL1 (P1154R)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 3234869	NM_001567.4(INPPL1):c.1497+5G>C	INPPL1	Single nucleotide variant (intron variant)	Opsismodysplasia	GUncertain significance
Select item 2921100	NM_001567.4(INPPL1):c.1012G>T (p.Val338Leu)	INPPL1 (V338L)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2687875	NM_001567.4(INPPL1):c.1397T>A (p.Ile466Asn)	INPPL1 (I466N)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2432855	NM_001567.4(INPPL1):c.3087C>G (p.His1029Gln)	INPPL1 (H1029Q)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2432854	NM_001567.4(INPPL1):c.724C>T (p.Pro242Ser)	INPPL1 (P242S)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2432853	NM_001567.4(INPPL1):c.2633G>A (p.Arg878His)	INPPL1 (R878H)	Single nucleotide variant (missense variant)	Opsismodysplasia +1 more	GUncertain significance
Select item 2431035	NM_001567.4(INPPL1):c.2839C>T (p.Pro947Ser)	INPPL1 (P947S)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 1709919	NM_001567.4(INPPL1):c.3562dup (p.Leu1188fs)	INPPL1 (L1188fs)	Duplication (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 1683469	NM_001567.4(INPPL1):c.115_128del (p.Gly39fs)	INPPL1, LOC130006328 (G39fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 1683468	NM_001567.4(INPPL1):c.1963A>T (p.Ile655Phe)	INPPL1 (I655F)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 1528319	NM_001567.4(INPPL1):c.465G>A (p.Gly155=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1339494	NM_001567.4(INPPL1):c.3466del (p.Arg1156fs)	INPPL1 (R1156fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 1324584	NM_001567.4(INPPL1):c.2356C>T (p.Gln786Ter)	INPPL1 (Q786*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GLikely pathogenic
Select item 1323118	NM_001567.4(INPPL1):c.3551_3552+1del	INPPL1	Microsatellite (splice donor variant)	Opsismodysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1323117	NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter)	INPPL1 (Y102*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GPathogenic
Select item 1308338	NM_001567.4(INPPL1):c.3244G>A (p.Gly1082Arg)	INPPL1 (G1082R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1289494	NM_001567.4(INPPL1):c.1091-25A>G	INPPL1	Single nucleotide variant (intron variant)	Opsismodysplasia +1 more	GBenign
Select item 1228824	NM_001567.4(INPPL1):c.518+14C>G	INPPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170422	NM_001567.4(INPPL1):c.987A>G (p.Ser329=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1052280	NM_001567.4(INPPL1):c.349G>A (p.Val117Ile)	INPPL1 (V117I)	Single nucleotide variant (missense variant)	Opsismodysplasia +1 more	GUncertain significance
Select item 1032754	NM_001567.4(INPPL1):c.2326+9C>T	INPPL1	Single nucleotide variant (intron variant)	Opsismodysplasia +1 more	GUncertain significance
Select item 1029357	NM_001567.4(INPPL1):c.3549_3550insA (p.Glu1184fs)	INPPL1 (E1184fs)	Insertion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 1027944	NM_001567.4(INPPL1):c.2213-2A>C	INPPL1	Single nucleotide variant (splice acceptor variant)	Opsismodysplasia	GPathogenic/Likely pathogenic
Select item 1016626	NM_001567.4(INPPL1):c.3563T>G (p.Leu1188Arg)	INPPL1 (L1188R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931442	NM_001567.4(INPPL1):c.939+1G>A	INPPL1	Single nucleotide variant (splice donor variant)	Opsismodysplasia	GPathogenic
Select item 782869	NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn)	INPPL1 (K303N)	Single nucleotide variant (missense variant)	Opsismodysplasia +1 more	GBenign/Likely benign
Select item 590925	NM_001567.4(INPPL1):c.1108_1155del (p.Ser370_Lys385del)	INPPL1	Deletion (inframe_deletion)	Opsismodysplasia	GUncertain significance
Select item 488146	NM_001567.4(INPPL1):c.1636G>A (p.Val546Ile)	INPPL1 (V546I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431061	NM_001567.3(INPPL1):c.[1115delG];[2331C>G]			Opsismodysplasia	GPathogenic
Select item 431058	NM_001567.4(INPPL1):c.1845dup (p.Ile616fs)	INPPL1 (I616fs)	Duplication (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 242401	NM_001567.4(INPPL1):c.24_39del (p.Gly9fs)	INPPL1, LOC130006327 (G9fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
Select item 235826	NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp)	INPPL1 (R691W)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 235825	NM_001567.3(INPPL1):c.[2415+1G>A;768_769delAG]	INPPL1 (E258fs)	Single nucleotide variant (splice donor variant +1 more)	Opsismodysplasia	GPathogenic
Select item 235824	NM_001567.4(INPPL1):c.768_769del (p.Glu258fs)	INPPL1 (E258fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 235823	NM_001567.3(INPPL1):c.[1687_1691delACCTC;35dupG]	INPPL1, LOC130006327 (T563fs +1 more)	Microsatellite (frameshift variant)	Opsismodysplasia	GPathogenic
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 39481	NM_001567.4(INPPL1):c.94_121del (p.Glu32fs)	INPPL1, LOC130006328 (E32fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 39480	NM_001567.4(INPPL1):c.2164T>A (p.Phe722Ile)	INPPL1 (F722I)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39479	NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp)	INPPL1 (R401W)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39478	NM_001567.4(INPPL1):c.278_282del (p.Gln93fs)	INPPL1 (Q93fs)	Deletion (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 39477	NM_001567.4(INPPL1):c.1975C>T (p.Pro659Ser)	INPPL1 (P659S)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39476	NM_001567.4(INPPL1):c.2415+1G>A	INPPL1	Single nucleotide variant (splice donor variant)	Opsismodysplasia	GPathogenic
Select item 39475	NM_001567.4(INPPL1):c.768del (p.Glu258fs)	INPPL1 (E258fs)	Deletion (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 39474	NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)	INPPL1 (S182*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GPathogenic
Select item 39473	NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu)	INPPL1 (P659L)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic

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Links from MedGen

Items: 46