ClinVar for Gene (Select 167153) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175997	NM_001114394.3(TENT2):c.989G>C (p.Ser330Thr)	TENT2 (S296T +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175996	NM_001114394.3(TENT2):c.79C>T (p.Pro27Ser)	TENT2 (P27S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175995	NM_001114394.3(TENT2):c.712A>C (p.Ile238Leu)	TENT2 (I118L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175994	NM_001114394.3(TENT2):c.707G>A (p.Arg236Gln)	TENT2 (R232Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175993	NM_001114394.3(TENT2):c.648A>T (p.Leu216Phe)	TENT2 (L100F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175992	NM_001114394.3(TENT2):c.628C>T (p.Arg210Trp)	TENT2 (R180W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175991	NM_001114394.3(TENT2):c.413A>C (p.Glu138Ala)	TENT2 (E22A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175990	NM_001114394.3(TENT2):c.410G>A (p.Arg137Gln)	TENT2 (R136Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175989	NM_001114394.3(TENT2):c.364C>G (p.His122Asp)	TENT2 (H92D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175988	NM_001114394.3(TENT2):c.287C>T (p.Pro96Leu)	TENT2 (P96L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175987	NM_001114394.3(TENT2):c.238G>A (p.Asp80Asn)	TENT2 (D50N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175986	NM_001114394.3(TENT2):c.147A>C (p.Arg49Ser)	TENT2 (R49S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175985	NM_001114394.3(TENT2):c.1277G>A (p.Arg426Lys)	TENT2 (R383K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175984	NM_001114394.3(TENT2):c.1154C>T (p.Ser385Leu)	TENT2 (S380L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175983	NM_001114394.3(TENT2):c.1133C>T (p.Pro378Leu)	TENT2 (P258L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175982	NM_001114394.3(TENT2):c.1126G>A (p.Val376Ile)	TENT2 (V333I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175981	NM_001114394.3(TENT2):c.107T>C (p.Ile36Thr)	TENT2 (I36T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175980	NM_001114394.3(TENT2):c.107T>A (p.Ile36Lys)	TENT2 (I36K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175979	NM_001114394.3(TENT2):c.1079T>G (p.Phe360Cys)	TENT2 (F162C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175978	NM_001114394.3(TENT2):c.1069C>A (p.Pro357Thr)	TENT2 (P159T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175977	NM_001114394.3(TENT2):c.1028C>A (p.Thr343Asn)	TENT2 (T120N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684421	GRCh37/hg19 5q14.1(chr5:78798621-79189918)x3	CMYA5, HOMER1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2528118	NM_001114394.3(TENT2):c.1390A>G (p.Arg464Gly)	TENT2 (R459G +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481600	NM_001114394.3(TENT2):c.824G>T (p.Cys275Phe)	TENT2 (C241F +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476630	NM_001114394.3(TENT2):c.1198A>G (p.Thr400Ala)	TENT2 (T177A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466245	NM_001114394.3(TENT2):c.1006A>T (p.Met336Leu)	TENT2 (M138L +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457468	NM_001114394.3(TENT2):c.86T>G (p.Val29Gly)	TENT2 (V29G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455081	NM_001114394.3(TENT2):c.974G>A (p.Arg325His)	TENT2 (R127H +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 979684	GRCh37/hg19 5q14.1(chr5:78845630-79106163)x1	CMYA5, TENT2	Copy number loss	not provided	GUncertain significance
Select item 814696	GRCh37/hg19 5q14.1(chr5:78094810-78936391)x3	DMGDH, HOMER1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687219	GRCh37/hg19 5q14.1(chr5:78700197-79294390)x3	CMYA5, HOMER1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685870	GRCh37/hg19 5q14.1(chr5:78687874-79208782)x3	CMYA5, HOMER1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41