Related gene-specific medical variations for Gene (Select 100313843) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010132	NM_000094.4(COL7A1):c.5424+7G>A	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2875901	NM_000094.4(COL7A1):c.5389-8C>G	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873584	NM_000094.4(COL7A1):c.5424+11G>C	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2757348	NM_000094.4(COL7A1):c.5409G>T (p.Gly1803=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2730525	NM_000094.4(COL7A1):c.5424+3A>G	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2573362	NM_000094.4(COL7A1):c.5389-2_5389-1del	COL7A1, MIR711	Deletion (non-coding transcript variant +1 more)	COL7A1-related disorder	GLikely pathogenic
Select item 2058108	NM_000094.4(COL7A1):c.5424+8A>T	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1686592	NM_000094.4(COL7A1):c.5413C>T (p.Pro1805Ser)	COL7A1, MIR711 (P1805S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1635551	NM_000094.4(COL7A1):c.5389-15del	COL7A1, MIR711	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1626653	NM_000094.4(COL7A1):c.5415A>C (p.Pro1805=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1445669	NM_000094.4(COL7A1):c.5394del (p.Ala1799fs)	MIR711, COL7A1 (A1799fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1200940	NM_000094.4(COL7A1):c.5414C>T (p.Pro1805Leu)	COL7A1, MIR711 (P1805L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1160736	NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1152278	NM_000094.4(COL7A1):c.5409G>A (p.Gly1803=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1121436	NM_000094.4(COL7A1):c.5424+9G>A	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1085696	NM_000094.4(COL7A1):c.5424+7G>T	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1080317	NM_000094.4(COL7A1):c.5400C>A (p.Gly1800=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1048044	NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg)	COL7A1, MIR711 (G1803R)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 1048043	NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp)	MIR711, COL7A1 (G1797D)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermolysis bullosa dystrophica	GPathogenic
Select item 792437	NM_000094.4(COL7A1):c.5424+10G>C	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 765367	NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)	COL7A1, MIR711	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 21