TM6SF2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 3326468	NM_001001524.3(TM6SF2):c.1058G>A (p.Arg353His)	TM6SF2 (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387892	NM_001001524.3(TM6SF2):c.1000G>A (p.Gly334Ser)	TM6SF2 (G334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608151	NM_001001524.3(TM6SF2):c.953T>C (p.Met318Thr)	TM6SF2 (M318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369739	NM_001001524.3(TM6SF2):c.920G>A (p.Gly307Asp)	TM6SF2 (G307D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2409714	NM_001001524.3(TM6SF2):c.901G>T (p.Val301Leu)	TM6SF2 (V301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523401	NM_001001524.3(TM6SF2):c.899T>C (p.Leu300Ser)	TM6SF2 (L300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326469	NM_001001524.3(TM6SF2):c.740G>T (p.Cys247Phe)	TM6SF2 (C247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204701	NM_001001524.3(TM6SF2):c.704G>A (p.Arg235Gln)	TM6SF2 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178132	NM_001001524.3(TM6SF2):c.703C>T (p.Arg235Trp)	TM6SF2 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178131	NM_001001524.3(TM6SF2):c.631G>C (p.Gly211Arg)	TM6SF2 (G211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606067	NM_001001524.3(TM6SF2):c.565G>T (p.Val189Phe)	TM6SF2 (V189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649604	NM_001001524.3(TM6SF2):c.444C>T (p.Phe148=)	TM6SF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527858	NM_001001524.3(TM6SF2):c.413G>A (p.Arg138Gln)	TM6SF2 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708153	NM_001001524.3(TM6SF2):c.412C>T (p.Arg138Trp)	TM6SF2 (R138W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2590031	NM_001001524.3(TM6SF2):c.325G>A (p.Gly109Arg)	TM6SF2 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178130	NM_001001524.3(TM6SF2):c.320C>T (p.Ala107Val)	TM6SF2 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399121	NM_001001524.3(TM6SF2):c.314G>A (p.Arg105His)	TM6SF2 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556833	NM_001001524.3(TM6SF2):c.236T>G (p.Leu79Arg)	TM6SF2 (L79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207398	NM_001001524.3(TM6SF2):c.172G>A (p.Glu58Lys)	TM6SF2 (E58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649605	NM_001001524.3(TM6SF2):c.149C>T (p.Ala50Val)	TM6SF2 (A50V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771517	NM_001001524.3(TM6SF2):c.96-6C>G	TM6SF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398558	NM_001001524.3(TM6SF2):c.56C>T (p.Pro19Leu)	TM6SF2 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481827	NM_001001524.3(TM6SF2):c.49G>A (p.Ala17Thr)	TM6SF2 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402379	NM_001001524.3(TM6SF2):c.22G>A (p.Gly8Ser)	TM6SF2 (G8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516589	NM_001001524.3(TM6SF2):c.5A>G (p.Asp2Gly)	TM6SF2 (D2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 36