Related gene-specific medical variations for Gene (Select 10312) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361309	NM_006019.4(TCIRG1):c.385G>C (p.Ala129Pro)	TCIRG1 (A129P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3244766	NC_000011.9:g.(?_67810403)_(67810508_?)dup	TCIRG1	Duplication	not provided	GLikely pathogenic
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 2918856	NM_006019.4(TCIRG1):c.1021-14G>A	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2790166	NM_006019.4(TCIRG1):c.1021-5C>T	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2758589	NM_006019.4(TCIRG1):c.1021-11C>T	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2749238	NM_006019.4(TCIRG1):c.1021-1G>C	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2693622	NM_006019.4(TCIRG1):c.1021-2A>G	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 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 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 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 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 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 2679102	NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)	TCIRG1 (S435fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 2148533	NM_006019.4(TCIRG1):c.1021-14G>T	MIR6753, TCIRG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1330624	NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu)	TCIRG1 (P142L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991517	NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser)	TCIRG1 (G517S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991178	NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr)	TCIRG1 (H311Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991175	NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile)	TCIRG1 (V245I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991174	NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu)	TCIRG1 (F231L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991169	NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr)	TCIRG1 (F151Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991164	NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=)	TCIRG1	Single nucleotide variant (synonymous variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991163	NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val)	TCIRG1 (L120V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 991161	NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu)	TCIRG1 (Q259L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 990511	NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu)	TCIRG1 (R57L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 804460	NM_006019.4(TCIRG1):c.2415-1G>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 804459	NM_006019.4(TCIRG1):c.674del (p.Gly225fs)	TCIRG1 (G225fs +1 more)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 235762	NM_006019.4(TCIRG1):c.-5+560dup	TCIRG1	Duplication (intron variant)	not provided	GBenign
Select item 235422	NM_006019.4(TCIRG1):c.1166-970A>G	TCIRG1	Single nucleotide variant (intron variant)	not provided	GBenign

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Links from Gene

Items: 62