Related gene-specific medical variations for Gene (Select 63892) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034747	NM_022065.5(THADA):c.4631C>G (p.Ser1544Cys)	LOC122757928, THADA (S1503C +2 more)	Single nucleotide variant (missense variant +1 more)	THADA-related condition	GBenign
Select item 2612680	NM_022065.5(THADA):c.4568C>T (p.Ala1523Val)	THADA, LOC122757928 (A1482V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608533	NM_022065.5(THADA):c.4709C>T (p.Ala1570Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410726	NM_022065.5(THADA):c.4610G>A (p.Arg1537Gln)	LOC122757928, THADA (R1496Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2357676	NM_022065.5(THADA):c.4744C>G (p.Pro1582Ala)	LOC122757928, THADA (P1582A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318976	NM_022065.5(THADA):c.4573G>T (p.Ala1525Ser)	LOC122757928, THADA (A1484S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311247	NM_022065.5(THADA):c.4589C>T (p.Ala1530Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2279464	NM_022065.5(THADA):c.4528C>G (p.Pro1510Ala)	LOC122757928, THADA (P1510A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341829	NM_022065.5(THADA):c.5530G>A (p.Val1844Met)	THADA (V1803M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 979354	GRCh37/hg19 2p21(chr2:43489278-43559950)x1	THADA	Copy number loss	not provided	GLikely benign
Select item 979351	GRCh37/hg19 2p21(chr2:43457560-43554972)x1	THADA	Copy number loss	not provided	GLikely benign
Select item 562553	GRCh37/hg19 2p21(chr2:43525825-43768251)x1	THADA	Copy number loss	not provided	GUncertain significance
Select item 395113	GRCh37/hg19 2p21(chr2:43518750-43602889)x1	THADA	Copy number loss	See cases	GLikely benign