Related gene-specific medical variations for Gene (Select 53346) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326467	NM_023003.5(TM6SF1):c.148G>A (p.Ala50Thr)	HDGFL3, TM6SF1 (A50T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2685527	GRCh37/hg19 15q25.2(chr15:83761400-83811857)x1	TM6SF1	Copy number loss	not provided	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 2257434	NM_023003.5(TM6SF1):c.22G>A (p.Gly8Arg)	LOC130057786, TM6SF1 (G8R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 21