ClinVar for MedGen (Select 409627) - ClinVar

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Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255027	NM_014028.4(OSTM1):c.811C>T (p.Arg271Ter)	OSTM1 (R271*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 5	GPathogenic
Select item 907771	NM_014028.4(OSTM1):c.558A>G (p.Thr186=)	OSTM1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 907649	NM_014028.4(OSTM1):c.*2799A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 907648	NM_014028.4(OSTM1):c.*3060G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 907647	NM_014028.4(OSTM1):c.*3186T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	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 906784	NM_014028.4(OSTM1):c.*262C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906783	NM_014028.4(OSTM1):c.*751C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906696	NM_014028.4(OSTM1):c.*1844T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906695	NM_014028.4(OSTM1):c.*2195T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906694	NM_014028.4(OSTM1):c.*2276C>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 906625	NM_014028.4(OSTM1):c.*3256A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906624	NM_014028.4(OSTM1):c.*3280T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905236	NM_014028.4(OSTM1):c.198A>G (p.Gly66=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 905235	NM_014028.4(OSTM1):c.279C>T (p.Asn93=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905234	NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly)	OSTM1 (S94G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905179	NM_014028.4(OSTM1):c.*835G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905178	NM_014028.4(OSTM1):c.*872T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905177	NM_014028.4(OSTM1):c.*1007G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905119	NM_014028.4(OSTM1):c.*2276C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905118	NM_014028.4(OSTM1):c.*2362A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 904385	NM_014028.4(OSTM1):c.*1045T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904384	NM_014028.4(OSTM1):c.*1085T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904383	NM_014028.4(OSTM1):c.*1166A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904320	NM_014028.4(OSTM1):c.*2366A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 904319	NM_014028.4(OSTM1):c.*2487T>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904318	NM_014028.4(OSTM1):c.*2707C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904317	NM_014028.4(OSTM1):c.*2769G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 802255	NM_014028.4(OSTM1):c.486del (p.Phe162fs)	OSTM1 (F162fs)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 5	GPathogenic
Select item 788538	NM_014028.4(OSTM1):c.615+8A>G	OSTM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 788101	NM_014028.4(OSTM1):c.960C>G (p.Leu320=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 721075	NM_014028.4(OSTM1):c.495A>G (p.Thr165=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 632470	NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter)	OSTM1 (R266*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 593746	NM_014028.4(OSTM1):c.325G>A (p.Val109Met)	OSTM1 (V109M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 488566	NM_014028.4(OSTM1):c.783+5G>T	OSTM1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 5	GPathogenic
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 354990	NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe)	OSTM1 (L52F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 354989	NM_014028.4(OSTM1):c.300G>T (p.Gly100=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 354984	NM_014028.4(OSTM1):c.784-10C>G	OSTM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354983	NM_014028.4(OSTM1):c.933A>G (p.Lys311=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354982	NM_014028.4(OSTM1):c.950-12T>C	OSTM1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 354981	NM_014028.4(OSTM1):c.*147G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 354980	NM_014028.4(OSTM1):c.*168T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354979	NM_014028.4(OSTM1):c.*177A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354978	NM_014028.4(OSTM1):c.*212A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354977	NM_014028.4(OSTM1):c.*291A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354976	NM_014028.4(OSTM1):c.*331A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354975	NM_014028.4(OSTM1):c.*355A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354974	NM_014028.4(OSTM1):c.*432T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354973	NM_014028.4(OSTM1):c.*778T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354972	NM_014028.4(OSTM1):c.*873A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354971	NM_014028.4(OSTM1):c.*953C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354970	NM_014028.4(OSTM1):c.*1023A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354969	NM_014028.4(OSTM1):c.*1038A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354968	NM_014028.4(OSTM1):c.*1082G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354967	NM_014028.4(OSTM1):c.*1161G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354966	NM_014028.4(OSTM1):c.*1205C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354965	NM_014028.4(OSTM1):c.*1334T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354964	NM_014028.4(OSTM1):c.*1352A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354963	NM_014028.4(OSTM1):c.*1367G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354962	NM_014028.4(OSTM1):c.*1399T>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354961	NM_014028.4(OSTM1):c.*1407A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354960	NM_014028.4(OSTM1):c.*1427A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354958	NM_014028.4(OSTM1):c.*1455C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354957	NM_014028.4(OSTM1):c.*1469G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354956	NM_014028.4(OSTM1):c.*1574A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354955	NM_014028.4(OSTM1):c.*1634A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354954	NM_014028.4(OSTM1):c.*1883T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354952	NM_014028.4(OSTM1):c.*2035A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354951	NM_014028.4(OSTM1):c.*2053C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354950	NM_014028.4(OSTM1):c.*2138G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354949	NM_014028.4(OSTM1):c.*2145A>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354948	NM_014028.4(OSTM1):c.*2277G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354947	NM_014028.4(OSTM1):c.*2283T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354946	NM_014028.4(OSTM1):c.*2301A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354945	NM_014028.4(OSTM1):c.*2317A>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354944	NM_014028.4(OSTM1):c.*2329G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354943	NM_014028.4(OSTM1):c.*2344C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354941	NM_014028.4(OSTM1):c.*2364A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354940	NM_014028.4(OSTM1):c.*2371G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354934	NM_014028.4(OSTM1):c.*2547G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354933	NM_014028.4(OSTM1):c.*2755A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354932	NM_014028.4(OSTM1):c.*2773G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354931	NM_014028.4(OSTM1):c.*2858A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354930	NM_014028.4(OSTM1):c.*2887G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354929	NM_014028.4(OSTM1):c.*2990T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354928	NM_014028.4(OSTM1):c.*3192A>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 354927	NM_014028.4(OSTM1):c.*3319T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354926	NM_014028.4(OSTM1):c.*3329A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 283842	NM_014028.4(OSTM1):c.207G>T (p.Gly69=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 195291	NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)	OSTM1 (Q140fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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 193368	NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg)	OSTM1 (P74R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2944	NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)	LOC129996933, OSTM1 (C12*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 5	GPathogenic
Select item 2942	NM_014028.4(OSTM1):c.949+5G>A	OSTM1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 5	GPathogenic

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Items: 98