ClinVar (all) for Orgtrack (Select 508561) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684680	NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter)	TCIRG1 (Q331* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1684679	NM_006019.4(TCIRG1):c.2236+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1684678	NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln)	CSF1R (E149Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 1684677	NM_002834.5(PTPN11):c.28A>C (p.Asn10His)	PTPN11 (N10H)	Single nucleotide variant (missense variant)	Metachondromatosis	GUncertain significance
Select item 1684676	NM_003701.4(TNFSF11):c.929del (p.Ala310fs)	TNFSF11 (A237fs +1 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 2	GPathogenic
Select item 1684675	NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu)	CLCN7 (F734L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1684674	NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)	CLCN7 (R537W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 1684673	NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter)	TCIRG1 (W107* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1684672	NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)	CLCN7 (I351M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 1684671	NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs)	TNFRSF11A (S497fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 1684670	NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr)	TNFRSF11A (C127Y)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 1684669	NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn)	TNFRSF11A (K49N)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 7	GLikely pathogenic
Select item 1684668	NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys)	TCIRG1 (E169K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 1684667	NM_006019.4(TCIRG1):c.1165+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1684666	NM_006019.4(TCIRG1):c.2014-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1684665	NM_006019.4(TCIRG1):c.807+2T>G	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1460225	NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)	TCIRG1 (Q230* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 1452934	NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	TCIRG1 (C26fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1407165	NM_000376.3(VDR):c.110A>G (p.Asn37Ser)	VDR (N37S +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 1068056	NM_006019.4(TCIRG1):c.196+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 995579	NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	TCIRG1 (Q264* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 978470	NM_006019.4(TCIRG1):c.553del (p.Leu185fs)	TCIRG1 (L185fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 921344	NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)	FBN1 (N1256D)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 553699	NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	TCIRG1 (G458S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 65635	NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)	CLCN7 (G215R +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder +2 more	GPathogenic
Select item 6304	NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)	TNFRSF11A (A244S +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 5463	NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	TCIRG1 (G405R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 27