ClinVar for MedGen (Select 120563) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599000	NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	COL17A1 (E1382fs)	Microsatellite (frameshift variant)	COL17A1-related disorder +16 more	GPathogenic
Select item 523369	NM_000422.3(KRT17):c.960+5G>A	KRT17	Single nucleotide variant (intron variant)	Anonychia	GPathogenic
Select item 521270	NM_001029871.4(RSPO4):c.79+1G>A	RSPO4	Single nucleotide variant (splice donor variant)	Anonychia +2 more	GPathogenic
Select item 374052	NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1 (R669*)	Single nucleotide variant (nonsense)	Abnormality of the skin +16 more	GPathogenic
Select item 30847	NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg)	RSPO4 (G67R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30846	NM_001029871.4(RSPO4):c.190C>T (p.Arg64Cys)	RSPO4 (R64C)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30845	NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)	RSPO4 (Q101*)	Single nucleotide variant (nonsense)	Anonychia	GPathogenic
Select item 29636	NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	COL7A1 (K142R)	Single nucleotide variant (missense variant)	Recessive dystrophic epidermolysis bullosa +12 more	GPathogenic
Select item 1194	NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	RSPO4 (N34fs)	Duplication (frameshift variant)	Anonychia	GUncertain significance
Select item 1193	NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr)	RSPO4 (C73Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1192	NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)	RSPO4 (C118Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1191	NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)	RSPO4 (C107R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1190	NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg)	RSPO4 (Q65R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic