ClinVar for Gene (Select 101928909) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329914	NM_001010854.2(TTC7B):c.1642G>A (p.Asp548Asn)	TTC7B, TTC7B-AS1 (D446N +1 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 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 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 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 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