12035[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 2209475	NM_001033910.3(TRAF5):c.34T>C (p.Cys12Arg)	TRAF5 (C12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350133	NM_001033910.3(TRAF5):c.44T>A (p.Ile15Asn)	TRAF5 (I15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528203	NM_001033910.3(TRAF5):c.46C>T (p.Arg16Cys)	TRAF5 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398625	NM_001033910.3(TRAF5):c.47G>A (p.Arg16His)	TRAF5 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344765	NM_001033910.3(TRAF5):c.187C>T (p.Arg63Cys)	LOC129932445, TRAF5 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567698	NM_001033910.3(TRAF5):c.188G>A (p.Arg63His)	LOC129932445, TRAF5 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601703	NM_001033910.3(TRAF5):c.212C>T (p.Ser71Phe)	LOC129932445, TRAF5 (S71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274552	NM_001033910.3(TRAF5):c.220G>A (p.Glu74Lys)	TRAF5 (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181785	NM_001033910.3(TRAF5):c.230C>G (p.Thr77Arg)	TRAF5 (T77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376637	NM_001033910.3(TRAF5):c.248T>C (p.Val83Ala)	TRAF5 (V83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615112	NM_001033910.3(TRAF5):c.293G>A (p.Cys98Tyr)	TRAF5 (C98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596641	NM_001033910.3(TRAF5):c.319T>C (p.Tyr107His)	TRAF5 (Y107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536877	NM_001033910.3(TRAF5):c.335A>G (p.Asn112Ser)	TRAF5 (N112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181786	NM_001033910.3(TRAF5):c.394T>C (p.Cys132Arg)	TRAF5 (C132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319193	NM_001033910.3(TRAF5):c.398T>C (p.Leu133Ser)	TRAF5 (L133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558962	NM_001033910.3(TRAF5):c.472A>C (p.Ser158Arg)	TRAF5 (S158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290463	NM_001033910.3(TRAF5):c.526G>A (p.Val176Ile)	TRAF5 (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328424	NM_001033910.3(TRAF5):c.529G>A (p.Val177Ile)	TRAF5 (V177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537478	NM_001033910.3(TRAF5):c.557A>G (p.Asn186Ser)	TRAF5 (N186S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181787	NM_001033910.3(TRAF5):c.598G>T (p.Ala200Ser)	TRAF5 (A211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207684	NM_001033910.3(TRAF5):c.665G>A (p.Cys222Tyr)	TRAF5 (C222Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328426	NM_001033910.3(TRAF5):c.703C>T (p.Arg235Trp)	TRAF5 (R235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328425	NM_001033910.3(TRAF5):c.752G>A (p.Arg251His)	TRAF5 (R251H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265163	NM_001033910.3(TRAF5):c.803A>T (p.His268Leu)	TRAF5 (H268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540991	NM_001033910.3(TRAF5):c.886G>A (p.Ala296Thr)	TRAF5 (A307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328430	NM_001033910.3(TRAF5):c.902A>G (p.Lys301Arg)	TRAF5 (K301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181788	NM_001033910.3(TRAF5):c.929A>G (p.Gln310Arg)	TRAF5 (Q321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285131	NM_001033910.3(TRAF5):c.1115A>C (p.Glu372Ala)	TRAF5 (E383A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610436	NM_001033910.3(TRAF5):c.1222T>C (p.Trp408Arg)	TRAF5 (W408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541072	NM_001033910.3(TRAF5):c.1234G>T (p.Asp412Tyr)	TRAF5 (D412Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800316	NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs)	TRAF5 (E419fs +1 more)	Microsatellite (frameshift variant)	Multiple myeloma	GLikely pathogenic
Select item 2285351	NM_001033910.3(TRAF5):c.1256A>G (p.Glu419Gly)	TRAF5 (E430G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594214	NM_001033910.3(TRAF5):c.1310G>A (p.Arg437His)	TRAF5 (R448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181784	NM_001033910.3(TRAF5):c.1393G>A (p.Val465Ile)	TRAF5 (V465I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328275	NM_001033910.3(TRAF5):c.1406A>C (p.Glu469Ala)	TRAF5 (E480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473519	NM_001033910.3(TRAF5):c.1415C>T (p.Ser472Leu)	TRAF5 (S483L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328427	NM_001033910.3(TRAF5):c.1538G>C (p.Gly513Ala)	TRAF5 (G524A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462865	NM_001033910.3(TRAF5):c.1558G>C (p.Gly520Arg)	TRAF5 (G520R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328428	NM_001033910.3(TRAF5):c.1601A>G (p.Lys534Arg)	TRAF5 (K545R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328429	NM_001033910.3(TRAF5):c.1605C>T (p.Asn535=)	TRAF5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2410475	NM_001033910.3(TRAF5):c.1645G>A (p.Val549Met)	TRAF5 (V549M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808176	GRCh37/hg19 1q32.3(chr1:211538672-211617196)x1	TRAF5	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 61