Related gene-specific medical variations for Gene (Select 102466983) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010773	NM_002693.3(POLG):c.1586-8C>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2910263	NM_002693.3(POLG):c.1586-9C>T	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2897075	NM_002693.3(POLG):c.1586-10A>C	MIR6766, POLG +1 more	Single nucleotide variant (intron variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2863207	NM_002693.3(POLG):c.1586-6T>A	MIR6766, POLG +1 more	Single nucleotide variant (intron variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2837687	NM_002693.3(POLG):c.1586-11C>T	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2786120	NM_002693.3(POLG):c.1586-18C>T	MIR6766, POLG +1 more	Single nucleotide variant (intron variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2755275	NM_002693.3(POLG):c.1586-14C>T	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2712620	NM_002693.3(POLG):c.1586-5C>G	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1969193	NM_002693.3(POLG):c.1586-16T>C	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1635118	NM_002693.3(POLG):c.1586-11C>G	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1622942	NM_002693.3(POLG):c.1586-20G>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1569509	NM_002693.3(POLG):c.1586-11C>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 1030580	NM_002693.3(POLG):c.1586-1G>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 619459	NM_002693.3(POLG):c.1586-33_1586-31del	MIR6766, POLG +1 more	Deletion (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 619458	NM_002693.3(POLG):c.1586-21T>G	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 413486	NM_002693.3(POLG):c.1586-10A>G	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 379064	NM_002693.3(POLG):c.1586-5C>T	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 199081	NM_002693.3(POLG):c.1586-5del	MIR6766, POLG +1 more	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +9 more	GBenign/Likely benign