TRAM1L1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 767973	NM_152402.3(TRAM1L1):c.1092G>A (p.Arg364=)	TRAM1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458910	NM_152402.3(TRAM1L1):c.1076A>C (p.Asp359Ala)	TRAM1L1 (D359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328464	NM_152402.3(TRAM1L1):c.1066A>G (p.Asn356Asp)	TRAM1L1 (N356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655050	NM_152402.3(TRAM1L1):c.984T>C (p.Asn328=)	TRAM1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181852	NM_152402.3(TRAM1L1):c.808C>T (p.Leu270Phe)	TRAM1L1 (L270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377107	NM_152402.3(TRAM1L1):c.805G>A (p.Val269Ile)	TRAM1L1 (V269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316015	NM_152402.3(TRAM1L1):c.791C>T (p.Thr264Ile)	TRAM1L1 (T264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290384	NM_152402.3(TRAM1L1):c.725G>A (p.Ser242Asn)	TRAM1L1 (S242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396281	NM_152402.3(TRAM1L1):c.697T>G (p.Ser233Ala)	TRAM1L1 (S233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181851	NM_152402.3(TRAM1L1):c.598A>T (p.Ile200Phe)	TRAM1L1 (I200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399319	NM_152402.3(TRAM1L1):c.575A>G (p.Asp192Gly)	TRAM1L1 (D192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618339	NM_152402.3(TRAM1L1):c.551A>G (p.Tyr184Cys)	TRAM1L1 (Y184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368646	NM_152402.3(TRAM1L1):c.503T>C (p.Phe168Ser)	TRAM1L1 (F168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328465	NM_152402.3(TRAM1L1):c.446C>A (p.Pro149Gln)	TRAM1L1 (P149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181850	NM_152402.3(TRAM1L1):c.343A>G (p.Lys115Glu)	TRAM1L1 (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556474	NM_152402.3(TRAM1L1):c.320A>G (p.Lys107Arg)	TRAM1L1 (K107R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297614	NM_152402.3(TRAM1L1):c.179C>A (p.Pro60His)	TRAM1L1 (P60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397250	NM_152402.3(TRAM1L1):c.176T>A (p.Val59Asp)	TRAM1L1 (V59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491855	NM_152402.3(TRAM1L1):c.109G>C (p.Gly37Arg)	TRAM1L1 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320655	NM_152402.3(TRAM1L1):c.17A>G (p.Lys6Arg)	TRAM1L1 (K6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 814603	GRCh37/hg19 4q26(chr4:117624138-118017424)x3	TRAM1L1	Copy number gain	not provided	GLikely benign
Select item 814602	GRCh37/hg19 4q26(chr4:117071980-118177853)x1	TRAM1L1	Copy number loss	not provided	GLikely benign
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562961	GRCh37/hg19 4q26(chr4:117587400-118681955)x1	TRAM1L1	Copy number loss	not provided	GUncertain significance
Select item 562960	GRCh37/hg19 4q26(chr4:117108352-120317108)x1	NDST3, SEC24D +9 more	Copy number loss	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 442209	GRCh37/hg19 4q26(chr4:117734128-118284598)x3	TRAM1L1	Copy number gain	See cases	GUncertain significance
Select item 441819	GRCh37/hg19 4q26(chr4:117071980-118163551)x1	TRAM1L1	Copy number loss	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 395648	GRCh37/hg19 4q26(chr4:117824501-118593760)x3	TRAM1L1	Copy number gain	See cases	GLikely benign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 44