TGFA[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 764953	NM_003236.4(TGFA):c.476-9T>C	TGFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2283884	NM_003236.4(TGFA):c.472A>C (p.Thr158Pro)	TGFA (T163P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537252	NM_003236.4(TGFA):c.455C>A (p.Ala152Asp)	TGFA (A152D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283883	NM_003236.4(TGFA):c.440T>A (p.Leu147Gln)	TGFA (L147Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325684	NM_003236.4(TGFA):c.433G>A (p.Ala145Thr)	TGFA (A144T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553262	NM_003236.4(TGFA):c.421G>A (p.Glu141Lys)	TGFA (E146K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176637	NM_003236.4(TGFA):c.406C>T (p.Leu136Phe)	TGFA (L142F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709603	NM_003236.4(TGFA):c.325G>A (p.Val109Met)	TGFA (V108M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529765	NM_003236.4(TGFA):c.304G>A (p.Ala102Thr)	TGFA (A102T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746325	NM_003236.4(TGFA):c.276T>C (p.Ala92=)	TGFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3176636	NM_003236.4(TGFA):c.232G>A (p.Val78Ile)	TGFA (V84I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750438	NM_003236.4(TGFA):c.215+10C>T	TGFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3176635	NM_003236.4(TGFA):c.128A>G (p.His43Arg)	TGFA (H42R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325683	NM_003236.4(TGFA):c.113C>A (p.Ala38Glu)	TGFA (A37E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146628	GRCh38/hg38 2p13.3(chr2:70477119-70533315)x3	LOC120961765, TGFA +1 more	Copy number gain	See cases	GBenign
Select item 2226812	NM_003236.4(TGFA):c.86C>T (p.Pro29Leu)	TGFA (P29L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787233	NM_003236.4(TGFA):c.63G>A (p.Gln21=)	TGFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714126	NM_003236.4(TGFA):c.41-4A>G	TGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2374422	NM_003236.4(TGFA):c.11C>T (p.Ser4Leu)	TGFA (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 30