ClinVar for Gene (Select 50810) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178129	NM_023003.5(TM6SF1):c.95C>A (p.Ser32Tyr)	HDGFL3, TM6SF1 (S32Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178128	NM_023003.5(TM6SF1):c.937A>G (p.Ile313Val)	HDGFL3, TM6SF1 (I114V +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178127	NM_023003.5(TM6SF1):c.580G>A (p.Glu194Lys)	HDGFL3, TM6SF1 (E103K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178126	NM_023003.5(TM6SF1):c.565T>C (p.Tyr189His)	HDGFL3, TM6SF1 (Y189H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178125	NM_023003.5(TM6SF1):c.366G>A (p.Met122Ile)	HDGFL3, TM6SF1 (M122I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178124	NM_023003.5(TM6SF1):c.191T>C (p.Phe64Ser)	HDGFL3, TM6SF1 (F64S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178123	NM_023003.5(TM6SF1):c.160G>A (p.Val54Ile)	HDGFL3, TM6SF1 (V54I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2645642	NM_023003.5(TM6SF1):c.303G>A (p.Pro101=)	HDGFL3, TM6SF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2603829	NM_023003.5(TM6SF1):c.812A>G (p.Tyr271Cys)	HDGFL3, TM6SF1 (I164M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539381	NM_023003.5(TM6SF1):c.962C>T (p.Thr321Ile)	HDGFL3, TM6SF1 (T173I +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2464295	NM_023003.5(TM6SF1):c.178C>T (p.Arg60Trp)	TM6SF1, HDGFL3 (R60W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401300	NM_023003.5(TM6SF1):c.121C>G (p.Leu41Val)	HDGFL3, TM6SF1 (L41V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374751	NM_023003.5(TM6SF1):c.239T>C (p.Ile80Thr)	HDGFL3, TM6SF1 (I80T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374384	NM_023003.5(TM6SF1):c.749C>T (p.Thr250Met)	HDGFL3, TM6SF1 (T159M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350692	NM_023003.5(TM6SF1):c.392C>T (p.Ala131Val)	HDGFL3, TM6SF1 (A131V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345389	NM_023003.5(TM6SF1):c.416T>C (p.Ile139Thr)	HDGFL3, TM6SF1 (I48T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2324704	NM_023003.5(TM6SF1):c.938T>C (p.Ile313Thr)	HDGFL3, TM6SF1 (I191T +5 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2266769	NM_023003.5(TM6SF1):c.1055G>A (p.Arg352His)	HDGFL3, TM6SF1 (R321H +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147906	GRCh38/hg38 15q25.2(chr15:83101364-83291966)x1	BNC1, HDGFL3 +9 more	Copy number loss	See cases	GBenign
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25