ClinVar for Gene (Select 23471) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328463	NM_014294.6(TRAM1):c.736T>C (p.Tyr246His)	TRAM1 (Y215H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181849	NM_014294.6(TRAM1):c.899T>C (p.Val300Ala)	TRAM1 (V300A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181848	NM_014294.6(TRAM1):c.878T>C (p.Val293Ala)	TRAM1 (V262A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181847	NM_014294.6(TRAM1):c.694C>A (p.Leu232Ile)	TRAM1 (L146I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 2546103	NM_014294.6(TRAM1):c.551A>G (p.Tyr184Cys)	TRAM1 (Y153C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541418	NM_014294.6(TRAM1):c.410C>T (p.Thr137Ile)	TRAM1 (T137I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528753	NM_014294.6(TRAM1):c.94A>G (p.Met32Val)	LOC130000570, TRAM1 (M32V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523607	NM_014294.6(TRAM1):c.286G>A (p.Val96Ile)	TRAM1 (V96I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496058	NM_014294.6(TRAM1):c.1037C>A (p.Ser346Tyr)	TRAM1 (S260Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488556	NM_014294.6(TRAM1):c.1004A>G (p.Lys335Arg)	TRAM1 (K335R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406864	NM_014294.6(TRAM1):c.400G>A (p.Val134Ile)	TRAM1 (V48I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383876	NM_014294.6(TRAM1):c.622G>A (p.Ala208Thr)	TRAM1 (A177T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365240	NM_014294.6(TRAM1):c.508A>G (p.Ile170Val)	TRAM1 (I139V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305665	NM_014294.6(TRAM1):c.254T>G (p.Phe85Cys)	TRAM1 (F54C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222834	NM_014294.6(TRAM1):c.916G>A (p.Val306Ile)	TRAM1 (V275I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1527439	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 1340774	GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not provided	GPathogenic
Select item 979238	GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3	LACTB2, NCOA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815135	GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3	TRAM1, PRDM14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 789603	NM_014294.6(TRAM1):c.430A>G (p.Asn144Asp)	TRAM1 (N113D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685677	GRCh37/hg19 8q13.3(chr8:71475270-71849895)x1	LACTB2, TRAM1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443307	GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1	LACTB2, NCOA2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441934	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253642	GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1	PRDM14, SULF1 +6 more	Copy number loss	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149198	GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 145425	GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57153	GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1	C8orf34, EYA1 +53 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52