ClinVar for Gene (Select 1616) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270905	NM_001141969.2(DAXX):c.2105C>T (p.Ser702Phe)	DAXX (S714F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270904	NM_001141969.2(DAXX):c.1918G>A (p.Gly640Arg)	DAXX (G565R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270903	NM_001141969.2(DAXX):c.305C>T (p.Ser102Leu)	DAXX (S114L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270902	NM_001141969.2(DAXX):c.1187C>T (p.Ala396Val)	DAXX (A408V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270900	NM_001141969.2(DAXX):c.608G>A (p.Arg203Gln)	DAXX (R128Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270899	NM_001141969.2(DAXX):c.1490T>C (p.Met497Thr)	DAXX (M509T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 3080132	NM_001141969.2(DAXX):c.827A>G (p.Asn276Ser)	DAXX (N276S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080131	NM_001141969.2(DAXX):c.607C>T (p.Arg203Trp)	DAXX (R203W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080130	NM_001141969.2(DAXX):c.485C>T (p.Thr162Ile)	DAXX (T162I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080129	NM_001141969.2(DAXX):c.2113C>T (p.Arg705Trp)	DAXX (R630W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080128	NM_001141969.2(DAXX):c.2014C>T (p.Pro672Ser)	DAXX (P672S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080127	NM_001141969.2(DAXX):c.1958G>A (p.Arg653Lys)	DAXX (R653K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080126	NM_001141969.2(DAXX):c.1610C>T (p.Pro537Leu)	DAXX (P462L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080125	NM_001141969.2(DAXX):c.1511A>G (p.Asn504Ser)	DAXX (N504S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080124	NM_001141969.2(DAXX):c.1417G>A (p.Gly473Ser)	DAXX (G485S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080123	NM_001141969.2(DAXX):c.1318G>A (p.Asp440Asn)	DAXX (D440N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080121	NM_001141969.2(DAXX):c.1247G>A (p.Gly416Asp)	DAXX (G416D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605659	NM_001141969.2(DAXX):c.-63C>T	DAXX (R15W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590132	NM_001141969.2(DAXX):c.290C>T (p.Ser97Phe)	DAXX (S109F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588973	NM_001141969.2(DAXX):c.350G>A (p.Arg117Gln)	DAXX (R117Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554046	NM_001141969.2(DAXX):c.1042G>A (p.Val348Ile)	DAXX (V360I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552265	NM_001141969.2(DAXX):c.860G>A (p.Gly287Glu)	DAXX (G287E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550096	NM_001141969.2(DAXX):c.2114G>A (p.Arg705Gln)	DAXX (R705Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544976	NM_001141969.2(DAXX):c.236C>T (p.Ala79Val)	DAXX (A79V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517285	NM_001141969.2(DAXX):c.1817G>T (p.Gly606Val)	DAXX (G618V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511263	NM_001141969.2(DAXX):c.1901A>C (p.Lys634Thr)	DAXX (K646T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469750	NM_001141969.2(DAXX):c.1066G>A (p.Val356Met)	DAXX (V281M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2405260	NM_001141969.2(DAXX):c.-84G>A	DAXX (G8S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2401830	NM_001141969.2(DAXX):c.308C>T (p.Ala103Val)	DAXX (A115V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367624	NM_001141969.2(DAXX):c.77A>C (p.His26Pro)	DAXX (H26P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338683	NM_001141969.2(DAXX):c.488A>C (p.His163Pro)	DAXX (H163P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302731	NM_001141969.2(DAXX):c.130C>A (p.Pro44Thr)	DAXX (P56T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276566	NM_001141969.2(DAXX):c.640G>C (p.Glu214Gln)	DAXX (E226Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258998	NM_001141969.2(DAXX):c.238G>C (p.Asp80His)	DAXX (D5H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245384	NM_001141969.2(DAXX):c.1198G>C (p.Gly400Arg)	DAXX (G325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236579	NM_001141969.2(DAXX):c.766C>T (p.Arg256Cys)	DAXX (R256C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219124	NM_001141969.2(DAXX):c.344G>A (p.Arg115Gln)	DAXX (R127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 784074	NM_001141969.2(DAXX):c.1123G>A (p.Val375Ile)	DAXX (V375I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715804	NM_001141969.2(DAXX):c.1457C>G (p.Ala486Gly)	DAXX (A498G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711441	NM_001141969.2(DAXX):c.1317C>T (p.Asp439=)	DAXX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 446280	NM_001141969.2(DAXX):c.801_824del (p.Arg269_Asn276del)	DAXX	Deletion (inframe_deletion)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 446278	NM_001141969.2(DAXX):c.850C>T (p.Pro284Ser)	DAXX (P209S +2 more)	Single nucleotide variant (missense variant)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 446274	NM_001141969.2(DAXX):c.329_330del (p.Leu109_Ser110insTer)	DAXX	Microsatellite (nonsense)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 446272	NM_001141969.2(DAXX):c.1178del (p.Lys393fs)	DAXX (K318fs +2 more)	Deletion (frameshift variant)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56