Related gene-specific medical variations for Gene (Select 28962) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246218	NC_000006.11:g.(?_108375674)_(108375811_?)dup	OSTM1	Duplication	not provided	GLikely pathogenic
Select item 3246217	NC_000006.11:g.(?_108385369)_(108385523_?)dup	OSTM1	Duplication	not provided	GLikely pathogenic
Select item 3246216	NC_000006.11:g.(?_108385369)_(108385523_?)del	OSTM1	Deletion	not provided	GPathogenic
Select item 3246215	NC_000006.11:g.(?_108395434)_(108395855_?)del	OSTM1	Deletion	not provided	GPathogenic
Select item 3207199	NM_014028.4(OSTM1):c.47C>T (p.Pro16Leu)	LOC129996933, OSTM1 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3013219	NM_014028.4(OSTM1):c.90G>C (p.Leu30=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971056	NM_014028.4(OSTM1):c.99C>T (p.Leu33=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903667	NM_014028.4(OSTM1):c.25C>T (p.Gln9Ter)	LOC129996933, OSTM1 (Q9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2894314	NM_014028.4(OSTM1):c.96G>T (p.Ala32=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877127	NM_014028.4(OSTM1):c.105C>T (p.Phe35=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758265	NM_014028.4(OSTM1):c.57G>C (p.Pro19=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708822	NM_014028.4(OSTM1):c.69G>C (p.Leu23=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701807	NM_014028.4(OSTM1):c.66G>C (p.Leu22=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534866	NM_014028.4(OSTM1):c.68T>C (p.Leu23Pro)	LOC129996933, OSTM1 (L23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252268	NM_014028.4(OSTM1):c.43C>T (p.Pro15Ser)	LOC129996933, OSTM1 (P15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136450	NM_014028.4(OSTM1):c.108C>T (p.Gly36=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109387	NM_014028.4(OSTM1):c.9G>C (p.Pro3=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080265	NM_014028.4(OSTM1):c.48G>T (p.Pro16=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071807	NM_014028.4(OSTM1):c.68T>A (p.Leu23Gln)	OSTM1, LOC129996933 (L23Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070610	NM_014028.4(OSTM1):c.94G>A (p.Ala32Thr)	OSTM1, LOC129996933 (A32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2020023	NM_014028.4(OSTM1):c.66G>T (p.Leu22=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017025	NM_014028.4(OSTM1):c.133_134delinsTT (p.Asp45Phe)	LOC129996933, OSTM1 (D45F)	Indel (missense variant)	not provided	GUncertain significance
Select item 2006802	NM_014028.4(OSTM1):c.74G>A (p.Trp25Ter)	LOC129996933, OSTM1 (W25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1970295	NM_014028.4(OSTM1):c.55C>G (p.Pro19Ala)	LOC129996933, OSTM1 (P19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965529	NM_014028.4(OSTM1):c.119A>C (p.His40Pro)	LOC129996933, OSTM1 (H40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934482	NM_014028.4(OSTM1):c.68_69delinsAA (p.Leu23Gln)	LOC129996933, OSTM1 (L23Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1915480	NM_014028.4(OSTM1):c.44C>T (p.Pro15Leu)	LOC129996933, OSTM1 (P15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912894	NM_014028.4(OSTM1):c.117G>T (p.Pro39=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719159	NM_014028.4(OSTM1):c.77C>G (p.Ser26Trp)	LOC129996933, OSTM1 (S26W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696306	NM_014028.4(OSTM1):c.56C>T (p.Pro19Leu)	LOC129996933, OSTM1 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1650624	NM_014028.4(OSTM1):c.99C>G (p.Leu33=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640781	NM_014028.4(OSTM1):c.39G>T (p.Ser13=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623676	NM_014028.4(OSTM1):c.72G>A (p.Leu24=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1602371	NM_014028.4(OSTM1):c.12C>A (p.Gly4=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591808	NM_014028.4(OSTM1):c.6G>A (p.Glu2=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534673	NM_014028.4(OSTM1):c.69G>T (p.Leu23=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515603	NM_014028.4(OSTM1):c.14C>G (p.Pro5Arg)	LOC129996933, OSTM1 (P5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505780	NM_014028.4(OSTM1):c.49T>C (p.Trp17Arg)	LOC129996933, OSTM1 (W17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503201	NM_014028.4(OSTM1):c.71T>A (p.Leu24Gln)	LOC129996933, OSTM1 (L24Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490106	NM_014028.4(OSTM1):c.79G>T (p.Gly27Trp)	LOC129996933, OSTM1 (G27W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468041	NM_014028.4(OSTM1):c.124G>A (p.Val42Ile)	LOC129996933, OSTM1 (V42I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463555	NM_014028.4(OSTM1):c.88C>T (p.Leu30=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427628	NM_014028.4(OSTM1):c.61G>T (p.Gly21Trp)	OSTM1, LOC129996933 (G21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413303	NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp)	LOC129996933, OSTM1 (C12W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1397511	NM_014028.4(OSTM1):c.12C>T (p.Gly4=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394667	NM_014028.4(OSTM1):c.73T>C (p.Trp25Arg)	LOC129996933, OSTM1 (W25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378677	NM_014028.4(OSTM1):c.14C>T (p.Pro5Leu)	LOC129996933, OSTM1 (P5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1361098	NM_014028.4(OSTM1):c.47C>G (p.Pro16Arg)	LOC129996933, OSTM1 (P16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348356	NM_014028.4(OSTM1):c.78G>A (p.Ser26=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1101502	NM_014028.4(OSTM1):c.87C>G (p.Ala29=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002233	NM_014028.4(OSTM1):c.25C>G (p.Gln9Glu)	LOC129996933, OSTM1 (Q9E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906827	NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu)	LOC129996933, OSTM1 (P3L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 906826	NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly)	LOC129996933, OSTM1 (W17G)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 354993	NM_014028.4(OSTM1):c.-67G>T	LOC129996933, OSTM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354992	NM_014028.4(OSTM1):c.-52G>T	LOC129996933, OSTM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354991	NM_014028.4(OSTM1):c.67C>T (p.Leu23=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 193369	NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)	LOC129996933, OSTM1 (D45G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2944	NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)	LOC129996933, OSTM1 (C12*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 5	GPathogenic

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Links from Gene

Items: 58