TTC1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 3184048	NM_003314.3(TTC1):c.128G>A (p.Ser43Asn)	TTC1 (S43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596879	NM_003314.3(TTC1):c.142G>A (p.Asp48Asn)	TTC1 (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526584	NM_003314.3(TTC1):c.170A>G (p.Gln57Arg)	TTC1 (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225868	NM_003314.3(TTC1):c.183G>T (p.Glu61Asp)	TTC1 (E61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184049	NM_003314.3(TTC1):c.208T>A (p.Phe70Ile)	TTC1 (F70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184050	NM_003314.3(TTC1):c.224G>A (p.Gly75Glu)	TTC1 (G75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329751	NM_003314.3(TTC1):c.227C>T (p.Ala76Val)	TTC1 (A76V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512978	NM_003314.3(TTC1):c.287A>G (p.Tyr96Cys)	TTC1 (Y96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509328	NM_003314.3(TTC1):c.430G>A (p.Glu144Lys)	TTC1 (E144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329754	NM_003314.3(TTC1):c.443C>G (p.Ser148Cys)	TTC1 (S148C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339699	NM_003314.3(TTC1):c.482G>C (p.Arg161Thr)	TTC1 (R161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768047	NM_003314.3(TTC1):c.505-6T>C	TTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3184051	NM_003314.3(TTC1):c.523A>G (p.Ile175Val)	TTC1 (I175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471753	NM_003314.3(TTC1):c.605C>T (p.Thr202Met)	PWWP2A, TTC1 (T202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329753	NM_003314.3(TTC1):c.616G>A (p.Asp206Asn)	PWWP2A, TTC1 (D206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599797	NM_003314.3(TTC1):c.643A>G (p.Ile215Val)	PWWP2A, TTC1 (I215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184052	NM_003314.3(TTC1):c.677G>A (p.Arg226Lys)	PWWP2A, TTC1 (R226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487116	NM_003314.3(TTC1):c.740T>C (p.Met247Thr)	PWWP2A, TTC1 (M247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289238	NM_003314.3(TTC1):c.772G>A (p.Val258Ile)	PWWP2A, TTC1 (V258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402170	NM_003314.3(TTC1):c.784T>G (p.Phe262Val)	PWWP2A, TTC1 (F262V)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3184053	NM_003314.3(TTC1):c.813C>G (p.Ile271Met)	PWWP2A, TTC1 (I271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 40