ClinVar for Gene (Select 29117) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261730	NM_013263.5(BRD7):c.1484C>A (p.Thr495Lys)	BRD7 (T495K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261729	NM_013263.5(BRD7):c.1675G>A (p.Ala559Thr)	BRD7 (A559T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261728	NM_013263.5(BRD7):c.1771A>G (p.Asn591Asp)	BRD7, LOC126862343 (N591D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261727	NM_013263.5(BRD7):c.1762C>G (p.Gln588Glu)	BRD7, LOC126862343 (Q589E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261726	NM_013263.5(BRD7):c.158A>T (p.Asn53Ile)	BRD7 (N53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261724	NM_013263.5(BRD7):c.1730G>A (p.Gly577Asp)	BRD7, LOC126862343 (G578D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261723	NM_013263.5(BRD7):c.347C>T (p.Pro116Leu)	BRD7 (P116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3134982	NM_013263.5(BRD7):c.983A>G (p.Lys328Arg)	BRD7 (K328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134981	NM_013263.5(BRD7):c.296A>G (p.Asn99Ser)	BRD7 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134980	NM_013263.5(BRD7):c.215A>G (p.Gln72Arg)	BRD7 (Q72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134979	NM_013263.5(BRD7):c.15C>A (p.His5Gln)	BRD7, LOC130058995 (H5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134978	NM_013263.5(BRD7):c.1477C>G (p.Leu493Val)	BRD7 (L493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134977	NM_013263.5(BRD7):c.1186G>A (p.Val396Ile)	BRD7 (V396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134976	NM_013263.5(BRD7):c.1102C>T (p.Pro368Ser)	BRD7 (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646508	NM_013263.5(BRD7):c.147C>G (p.Phe49Leu)	BRD7 (F49L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2612607	NM_013263.5(BRD7):c.1559C>T (p.Ala520Val)	BRD7 (A520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592375	NM_013263.5(BRD7):c.1528T>G (p.Leu510Val)	BRD7 (L511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588348	NM_013263.5(BRD7):c.513C>G (p.Ile171Met)	BRD7 (I171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541379	NM_013263.5(BRD7):c.5G>A (p.Gly2Asp)	BRD7, LOC130058995 (G2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540308	NM_013263.5(BRD7):c.1748T>A (p.Met583Lys)	BRD7, LOC126862343 (M584K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528957	NM_013263.5(BRD7):c.827G>T (p.Arg276Ile)	BRD7 (R276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522638	NM_013263.5(BRD7):c.136T>C (p.Ser46Pro)	BRD7 (S46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426049	NC_000016.9:g.(?_49525186)_(51631253_?)dup	ADCY7, BRD7 +9 more	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426048	NC_000016.9:g.(?_49525186)_(51631253_?)del	ADCY7, BRD7 +9 more	Deletion	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2402662	NM_013263.5(BRD7):c.319T>C (p.Cys107Arg)	BRD7 (C107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379665	NM_013263.5(BRD7):c.391G>A (p.Val131Ile)	BRD7 (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377197	NM_013263.5(BRD7):c.287G>A (p.Arg96Gln)	BRD7 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375735	NM_013263.5(BRD7):c.1246T>A (p.Ser416Thr)	BRD7 (S416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346164	NM_013263.5(BRD7):c.1510G>A (p.Val504Ile)	BRD7 (V505I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338416	NM_013263.5(BRD7):c.373T>A (p.Leu125Ile)	BRD7 (L125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329239	NM_013263.5(BRD7):c.1385G>C (p.Ser462Thr)	BRD7 (S462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310123	NM_013263.5(BRD7):c.1792C>G (p.Gln598Glu)	BRD7, LOC126862343 (Q598E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292048	NM_013263.5(BRD7):c.423T>A (p.Asn141Lys)	BRD7 (N141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281652	NM_013263.5(BRD7):c.1415A>T (p.His472Leu)	BRD7 (H472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256818	NM_013263.5(BRD7):c.305A>G (p.Glu102Gly)	BRD7 (E102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249817	NM_013263.5(BRD7):c.406C>G (p.Leu136Val)	BRD7 (L136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223381	NM_013263.5(BRD7):c.162T>A (p.Asp54Glu)	BRD7 (D54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1707624	GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1	ADCY7, SNX20 +7 more	Copy number loss	Syndromic anorectal malformation	Gassociation
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 208203	NM_013263.5(BRD7):c.1834C>T (p.Arg612Ter)	BRD7, LOC126862343 (R613* +1 more)	Single nucleotide variant (nonsense)	Granular cell cancer	GLikely pathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	ADCY7, BRD7 +97 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 62