ClinVar for Gene (Select 145567) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184400	NM_001010854.2(TTC7B):c.887G>A (p.Arg296His)	TTC7B (R194H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184399	NM_001010854.2(TTC7B):c.854C>A (p.Pro285Gln)	TTC7B (P183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184397	NM_001010854.2(TTC7B):c.365G>A (p.Arg122Gln)	TTC7B (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184396	NM_001010854.2(TTC7B):c.2248C>T (p.Arg750Trp)	TTC7B (R665W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184395	NM_001010854.2(TTC7B):c.1601C>G (p.Ala534Gly)	TTC7B, TTC7B-AS1 (A432G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184394	NM_001010854.2(TTC7B):c.1375G>A (p.Val459Ile)	TTC7B (V357I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184393	NM_001010854.2(TTC7B):c.1066C>T (p.Leu356Phe)	TTC7B (L356F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644451	NM_001010854.2(TTC7B):c.378C>T (p.Asp126=)	TTC7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616331	NM_001010854.2(TTC7B):c.1210G>T (p.Ala404Ser)	TTC7B (A404S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615714	NM_001010854.2(TTC7B):c.1357A>C (p.Lys453Gln)	TTC7B (K351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614948	NM_001010854.2(TTC7B):c.2071C>T (p.Pro691Ser)	TTC7B (P691S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610169	NM_001010854.2(TTC7B):c.29T>A (p.Leu10Gln)	TTC7B (L10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609651	NM_001010854.2(TTC7B):c.1790G>A (p.Arg597Gln)	TTC7B (R495Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606273	NM_001010854.2(TTC7B):c.1760T>C (p.Phe587Ser)	TTC7B (F485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589807	NM_001010854.2(TTC7B):c.2227C>T (p.Arg743Trp)	TTC7B (R743W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2568969	NM_001010854.2(TTC7B):c.916C>T (p.Leu306Phe)	TTC7B (L306F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550919	NM_001010854.2(TTC7B):c.236G>A (p.Arg79His)	TTC7B (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541273	NM_001010854.2(TTC7B):c.1394C>T (p.Thr465Met)	TTC7B (T363M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541119	NM_001010854.2(TTC7B):c.1854C>A (p.Asn618Lys)	TTC7B (N618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534707	NM_001010854.2(TTC7B):c.11A>G (p.Lys4Arg)	TTC7B (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521527	NM_001010854.2(TTC7B):c.669G>C (p.Gln223His)	TTC7B (Q223H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521526	NM_001010854.2(TTC7B):c.668A>C (p.Gln223Pro)	TTC7B (Q223P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509941	NM_001010854.2(TTC7B):c.1880G>A (p.Arg627His)	TTC7B (R525H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477433	NM_001010854.2(TTC7B):c.235C>T (p.Arg79Cys)	TTC7B (R79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472743	NM_001010854.2(TTC7B):c.286C>G (p.Leu96Val)	TTC7B (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471249	NM_001010854.2(TTC7B):c.1972G>A (p.Val658Ile)	TTC7B (V658I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470297	NM_001010854.2(TTC7B):c.1483G>A (p.Val495Ile)	TTC7B (V393I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459575	NM_001010854.2(TTC7B):c.2341A>C (p.Ser781Arg)	TTC7B (S696R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2393114	NM_001010854.2(TTC7B):c.1896A>C (p.Leu632Phe)	TTC7B (L530F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383502	NM_001010854.2(TTC7B):c.1717G>A (p.Asp573Asn)	TTC7B, TTC7B-AS1 (D471N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377766	NM_001010854.2(TTC7B):c.1565C>G (p.Ala522Gly)	LOC126862023, TTC7B +1 more (A420G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372491	NM_001010854.2(TTC7B):c.1714A>G (p.Ile572Val)	TTC7B, TTC7B-AS1 (I470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356759	NM_001010854.2(TTC7B):c.1726C>G (p.Leu576Val)	TTC7B, TTC7B-AS1 (L576V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356109	NM_001010854.2(TTC7B):c.922C>T (p.Arg308Trp)	TTC7B (R308W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336663	NM_001010854.2(TTC7B):c.1324A>G (p.Met442Val)	TTC7B (M340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333097	NM_001010854.2(TTC7B):c.442A>G (p.Lys148Glu)	TTC7B (K148E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329227	NM_001010854.2(TTC7B):c.431C>G (p.Ala144Gly)	TTC7B (A144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311868	NM_001010854.2(TTC7B):c.1579A>G (p.Ile527Val)	LOC126862023, TTC7B +1 more (I527V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2309429	NM_001010854.2(TTC7B):c.2362C>T (p.Arg788Trp)	TTC7B (R788W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286616	NM_001010854.2(TTC7B):c.2156C>G (p.Thr719Ser)	TTC7B (T634S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261210	NM_001010854.2(TTC7B):c.2446G>T (p.Ala816Ser)	TTC7B (A887S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241309	NM_001010854.2(TTC7B):c.2076G>T (p.Trp692Cys)	TTC7B (W692C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215329	NM_001010854.2(TTC7B):c.718G>A (p.Gly240Arg)	TTC7B (G138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215284	NM_001010854.2(TTC7B):c.2242G>A (p.Glu748Lys)	TTC7B (E748K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526433	GRCh37/hg19 14q32.11(chr14:91006120-91753359)	CCDC88C, DGLUCY +3 more	Copy number gain	not specified	GUncertain significance
Select item 980617	GRCh37/hg19 14q32.11(chr14:90648169-91222138)x3	NRDE2, PSMC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 778517	NM_001010854.2(TTC7B):c.276+5C>T	TTC7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773559	NM_001010854.2(TTC7B):c.2224C>A (p.Leu742Ile)	TTC7B (L657I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768674	NM_001010854.2(TTC7B):c.144C>T (p.Leu48=)	TTC7B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58334	GRCh38/hg38 14q32.11(chr14:90495001-91296461)x3	CCDC88C, DGLUCY +45 more	Copy number gain	See cases	GUncertain significance
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 70