ClinVar for MedGen (Select 376708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240576	NM_006019.4(TCIRG1):c.-5+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240575	NM_006019.4(TCIRG1):c.1699del (p.Leu567fs)	TCIRG1 (L269fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240574	NM_006019.4(TCIRG1):c.1036_1039del (p.Ser346fs)	TCIRG1 (S130fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240573	NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter)	TCIRG1 (Q373* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240572	NM_006019.4(TCIRG1):c.1077dup (p.Thr360fs)	TCIRG1 (T144fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240571	NM_006019.4(TCIRG1):c.1006_1020+17del	TCIRG1	Deletion (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240570	NM_006019.4(TCIRG1):c.625dup (p.Val209fs)	TCIRG1 (V209fs)	Duplication (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240569	NM_006019.4(TCIRG1):c.1553del (p.Pro518fs)	TCIRG1 (P220fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240568	NM_006019.4(TCIRG1):c.429_430del (p.Thr145fs)	TCIRG1 (T145fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240567	NM_006019.4(TCIRG1):c.1432_1449delinsT (p.Val478fs)	TCIRG1 (V180fs +2 more)	Indel (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3240566	NM_006019.4(TCIRG1):c.1490del (p.Met497fs)	TCIRG1 (M199fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3239699	NM_006019.4(TCIRG1):c.1255dup (p.Ala419fs)	TCIRG1 (A121fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 3065114	NM_006019.4(TCIRG1):c.634G>A (p.Glu212Lys)	TCIRG1 (E212K)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 3061904	NM_006019.4(TCIRG1):c.1887+3G>C	TCIRG1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 2735684	NM_006019.4(TCIRG1):c.2119-2A>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1 +1 more	GLikely pathogenic
Select item 2679138	NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)	TCIRG1 (Y214* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 2679137	NM_006019.4(TCIRG1):c.1554+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679136	NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)	TCIRG1	Duplication (nonsense +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679135	NM_006019.4(TCIRG1):c.2321del (p.Val774fs)	TCIRG1 (V476fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679134	NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)	TCIRG1 (Q196* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679133	NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)	TCIRG1 (Q249* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679132	NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)	TCIRG1 (L145fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679131	NM_006019.4(TCIRG1):c.1020+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679130	NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)	TCIRG1 (S124* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679129	NM_006019.4(TCIRG1):c.390del (p.Val131fs)	TCIRG1 (V131fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679128	NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)	TCIRG1 (K2* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679127	NM_006019.4(TCIRG1):c.1674-1G>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 2679126	NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)	TCIRG1 (D160fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679125	NM_006019.4(TCIRG1):c.807+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679124	NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)	TCIRG1 (E494fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 2679123	NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)	TCIRG1 (F169fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679122	NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)	TCIRG1 (C296* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679121	NM_006019.4(TCIRG1):c.2414+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679120	NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)	TCIRG1 (Q121*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679119	NM_006019.4(TCIRG1):c.503+5G>A	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679118	NM_006019.4(TCIRG1):c.304del (p.Glu102fs)	TCIRG1 (E102fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679117	NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)	TCIRG1 (W107* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679116	NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)	TCIRG1 (L358fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679115	NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)	TCIRG1 (Q258* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679114	NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)	TCIRG1 (W216*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 2679113	NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)	TCIRG1 (G495R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679112	NM_006019.4(TCIRG1):c.1887+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +1 more	GLikely pathogenic
Select item 2679111	NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)	TCIRG1 (T152fs)	Indel (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679110	NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)	TCIRG1 (W189* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679109	NM_006019.4(TCIRG1):c.808-2A>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679108	NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)	TCIRG1 (G399fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679107	NM_006019.4(TCIRG1):c.1673+2T>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679106	NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)	TCIRG1 (I162fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2679105	NM_006019.4(TCIRG1):c.418-1G>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1 +1 more	GLikely pathogenic
Select item 2679103	NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)	TCIRG1 (S149*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679102	NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)	TCIRG1 (S435fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2627405	NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT	TCIRG1	Indel (splice acceptor variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 2579884	NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)	TCIRG1 (P477R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2446427	NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)	PLEKHM1 (G73fs)	Deletion (frameshift variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 2412722	NM_006019.4(TCIRG1):c.702del (p.Ile235fs)	TCIRG1 (I19fs +1 more)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GPathogenic/Likely pathogenic
Select item 2155741	NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)	TCIRG1 (H259fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2150582	NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)	TCIRG1 (E105K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137172	NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)	TCIRG1 (G112R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2021559	NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)	TCIRG1 (Q500* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2009623	NM_006019.4(TCIRG1):c.245del (p.Pro82fs)	TCIRG1 (P82fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1980632	NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)	TCIRG1 (V50fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 1964156	NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)	TCIRG1 (E247* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726423	NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)	TCIRG1 (S307fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1726406	NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)	TCIRG1 (Q331fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1726300	NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)	MIR6753, TCIRG1 (C241* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725604	NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)	TCIRG1 (F143fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725472	NM_006019.4(TCIRG1):c.766del (p.Ala256fs)	TCIRG1 (A256fs +1 more)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725359	NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)	TCIRG1 (N171fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1725044	NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)	TCIRG1 (S176fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1724924	NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)	TCIRG1 (T277fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1724846	NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)	TCIRG1 (A225fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1724613	NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)	TCIRG1 (E251fs +1 more)	Insertion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1705720	NM_006019.4(TCIRG1):c.16del (p.Arg6fs)	TCIRG1 (R6fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1705587	NM_006019.4(TCIRG1):c.2443G>C (p.Gly815Arg)	TCIRG1 (G517R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 1705340	NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)	TCIRG1 (F106fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 1687216	NM_006019.4(TCIRG1):c.2408_2410dup (p.Leu803dup)	TCIRG1	Duplication (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
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 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 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 1518803	NM_006019.4(TCIRG1):c.1888-1G>T	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1 +1 more	GLikely pathogenic
Select item 1507699	NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	TCIRG1 (I721del +2 more)	Deletion (inframe_deletion)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1492052	NM_006019.4(TCIRG1):c.117+5G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1488201	NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys)	TCIRG1 (R363C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GUncertain significance
Select item 1487056	NM_006019.4(TCIRG1):c.1021-1G>T	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1480777	NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro)	TCIRG1 (L6P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
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)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 1458624	NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)	TCIRG1 (F161fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 1458586	NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 1456773	NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)	TCIRG1 (W189fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454681	NM_006019.4(TCIRG1):c.1320_1321del (p.Phe441fs)	TCIRG1 (F441fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454531	NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)	TCIRG1 (E175*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1452936	NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)	TCIRG1 (L113fs +2 more)	Deletion (frameshift variant)	TCIRG1-related disorder +2 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 1451764	NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)	TCIRG1 (R362fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 1447238	NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)	TCIRG1 (A498fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1439289	NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr)	TCIRG1 (A182T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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