Related gene-specific medical variations for Gene (Select 3636) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362516	NM_001567.4(INPPL1):c.1945C>T (p.Arg649Ter)	INPPL1 (R649*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GLikely pathogenic
Select item 3244742	NC_000011.9:g.(?_71946389)_(71948539_?)del	INPPL1	Deletion	not provided	GPathogenic
Select item 3244741	NC_000011.9:g.(?_71935411)_(71943899_?)del	INPPL1	Deletion	not provided	GPathogenic
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 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 2318629	NM_001567.4(INPPL1):c.101T>G (p.Leu34Arg)	INPPL1, LOC130006328 (L34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312677	NM_001567.4(INPPL1):c.142G>A (p.Asp48Asn)	INPPL1, LOC130006328 (D48N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306854	NM_001567.4(INPPL1):c.175T>G (p.Cys59Gly)	INPPL1, LOC130006328 (C59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2123683	NM_001567.4(INPPL1):c.111G>A (p.Arg37=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981749	NM_001567.4(INPPL1):c.178G>C (p.Val60Leu)	INPPL1, LOC130006328 (V60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1964482	NM_001567.4(INPPL1):c.138C>A (p.Val46=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1683469	NM_001567.4(INPPL1):c.115_128del (p.Gly39fs)	INPPL1, LOC130006328 (G39fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
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 1605539	NM_001567.4(INPPL1):c.168C>T (p.Phe56=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587943	NM_001567.4(INPPL1):c.129C>T (p.Ser43=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550643	NM_001567.4(INPPL1):c.75C>T (p.Asp25=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1499246	NM_001567.4(INPPL1):c.182+1G>A	INPPL1, LOC130006328	Single nucleotide variant (splice donor variant)	not provided	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 1324584	NM_001567.4(INPPL1):c.2356C>T (p.Gln786Ter)	INPPL1 (Q786*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GLikely pathogenic
Select item 1323117	NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter)	INPPL1 (Y102*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GPathogenic
Select item 1245110	NM_001567.4(INPPL1):c.182+18_182+45del	INPPL1, LOC130006328	Deletion (intron variant)	not provided	GBenign
Select item 1224314	NM_001567.4(INPPL1):c.3057dup (p.Thr1020fs)	INPPL1 (T1020fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1101041	NM_001567.4(INPPL1):c.36C>A (p.Gly12=)	INPPL1, LOC130006327	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 931442	NM_001567.4(INPPL1):c.939+1G>A	INPPL1	Single nucleotide variant (splice donor variant)	Opsismodysplasia	GPathogenic
Select item 591669	NM_001567.4(INPPL1):c.1006G>A (p.Val336Met)	INPPL1 (V336M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591198	NM_001567.4(INPPL1):c.242T>C (p.Val81Ala)	INPPL1 (V81A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590925	NM_001567.4(INPPL1):c.1108_1155del (p.Ser370_Lys385del)	INPPL1	Deletion (inframe_deletion)	Opsismodysplasia	GUncertain significance
Select item 431060	NM_001567.4(INPPL1):c.2331C>G (p.Tyr777Ter)	INPPL1 (Y777*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 431059	NM_001567.4(INPPL1):c.1115del (p.Arg372fs)	INPPL1 (R372fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242401	NM_001567.4(INPPL1):c.24_39del (p.Gly9fs)	INPPL1, LOC130006327 (G9fs)	Deletion (frameshift variant)	Opsismodysplasia	GLikely pathogenic
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 242399	NM_001567.4(INPPL1):c.753G>C (p.Gln251His)	INPPL1 (Q251H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242398	NM_001567.4(INPPL1):c.1687_1691del (p.Thr563fs)	INPPL1 (T563fs)	Microsatellite (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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)	LOC130006328, INPPL1 (E32fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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Links from Gene

Items: 40