ClinVar for Gene (Select 53346) - ClinVar

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Links from Gene

Items: 54

	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 2685527	GRCh37/hg19 15q25.2(chr15:83761400-83811857)x1	TM6SF1	Copy number loss	not provided	GUncertain significance
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
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
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 666438	GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	not provided	GPathogenic
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441679	GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	GLikely pathogenic
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

ClinVar

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Links from Gene

Items: 54