"Counsyl"[submitter] AND "TCIRG1"[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553850	NM_006019.4(TCIRG1):c.-5+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GPathogenic/Likely pathogenic
Select item 551945	NM_006019.4(TCIRG1):c.117+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 5462	NM_006019.4(TCIRG1):c.117+4A>T	TCIRG1	Single nucleotide variant (genic upstream transcript variant +1 more)	Autosomal recessive osteopetrosis +3 more	GPathogenic/Likely pathogenic
Select item 551224	NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys)	TCIRG1 (R50C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 552024	NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)	TCIRG1 (Q69*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 551450	NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	TCIRG1 (P81fs)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 305784	NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)	TCIRG1 (E102fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 552835	NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	TCIRG1 (Q116*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552138	NM_006019.4(TCIRG1):c.391G>A (p.Val131Met)	TCIRG1 (V131M)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 554751	NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)	TCIRG1 (Q156*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 556585	NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	TCIRG1 (P161fs)	Duplication (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 558012	NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)	TCIRG1 (G160fs)	Indel (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 557925	NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)	TCIRG1 (Q163*)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 558548	NM_006019.4(TCIRG1):c.503+1G>A	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GLikely pathogenic
Select item 551799	NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)	TCIRG1 (L186fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 555562	NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del)	TCIRG1	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 550156	NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)	TCIRG1 (T210M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555046	NM_006019.4(TCIRG1):c.630+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551426	NM_006019.4(TCIRG1):c.630+2T>C	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 556136	NM_006019.4(TCIRG1):c.649A>G (p.Met217Val)	TCIRG1 (M217V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 553550	NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile)	TCIRG1 (M217I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 557128	NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)	TCIRG1 (T20fs +1 more)	Duplication (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 552719	NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)	TCIRG1 (T236M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557878	NM_006019.4(TCIRG1):c.713+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 555158	NM_006019.4(TCIRG1):c.713+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552470	NM_006019.4(TCIRG1):c.725A>G (p.His242Arg)	TCIRG1 (H242R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 553791	NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del)	TCIRG1 (E251del +1 more)	Microsatellite (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 558229	NM_006019.4(TCIRG1):c.807+18_807+54del	TCIRG1	Deletion (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553582	NM_006019.4(TCIRG1):c.807+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555180	NM_006019.4(TCIRG1):c.807+8_807+31del	TCIRG1	Deletion (intron variant)	Autosomal recessive osteopetrosis 1	GLikely benign
Select item 554112	NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal)	TCIRG1	Insertion (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 550832	NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	TCIRG1 (R327* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555504	NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)	TCIRG1 (E342* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 552720	NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)	TCIRG1 (G157fs +2 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 552555	NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup)	TCIRG1	Duplication (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 552227	NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)	TCIRG1 (G405R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5463	NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	TCIRG1 (G405R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 557398	NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)	TCIRG1 (R426* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic
Select item 305804	NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	TCIRG1 (Q433* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557548	NM_006019.4(TCIRG1):c.1305+2T>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 553855	NM_006019.4(TCIRG1):c.1306-2dup	TCIRG1	Duplication (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 554018	NM_006019.4(TCIRG1):c.1306-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 555576	NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg)	TCIRG1 (M450R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 553699	NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	TCIRG1 (G458S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 556717	NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)	TCIRG1 (N164fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 550871	NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)	TCIRG1 (A182fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 554456	NM_006019.4(TCIRG1):c.1554+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 551487	NM_006019.4(TCIRG1):c.1555-2A>C	TCIRG1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 371557	NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)	TCIRG1 (W520* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 554118	NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del)	TCIRG1	Deletion (inframe_deletion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 557585	NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del)	TCIRG1 (N612del +2 more)	Deletion (inframe_deletion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 558282	NM_006019.4(TCIRG1):c.1887+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 551059	NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)	TCIRG1 (V333fs +2 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 555837	NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	TCIRG1 (V415fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552233	NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del)	TCIRG1	Deletion (inframe_deletion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 558278	NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup)	TCIRG1	Duplication (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 554788	NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup)	TCIRG1	Duplication (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 552102	NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del)	TCIRG1	Microsatellite (inframe_deletion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 554237	NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del)	TCIRG1 (R666del +2 more)	Microsatellite (inframe_deletion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 551284	NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	TCIRG1 (R670* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 555357	NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro)	TCIRG1 (S729P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 553240	NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	TCIRG1 (Q746* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 558226	NM_006019.4(TCIRG1):c.2236+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 557523	NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3])	TCIRG1	Duplication (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 558401	NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4])	TCIRG1	Microsatellite (inframe_insertion)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 557939	NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)	TCIRG1 (W805* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 554390	NM_006019.4(TCIRG1):c.2415-2A>G	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558303	NM_006019.4(TCIRG1):c.1_9del (p.Ter831=)	TCIRG1	Deletion (no sequence alteration)	Autosomal recessive osteopetrosis 1	GUncertain significance

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Items: 68