Related gene-specific medical variations for Gene (Select 284618) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094326	NM_002004.4(FDPS):c.986A>C (p.Gln329Pro)	FDPS, RUSC1-AS1 (Q158P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094325	NM_002004.4(FDPS):c.919A>G (p.Ile307Val)	FDPS, RUSC1-AS1 (I136V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094324	NM_002004.4(FDPS):c.673C>G (p.Leu225Val)	FDPS, RUSC1-AS1 (L225V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094322	NM_002004.4(FDPS):c.583A>G (p.Ile195Val)	FDPS, RUSC1-AS1 (I24V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058163	NM_002004.4(FDPS):c.849A>G (p.Ala283=)	FDPS, RUSC1-AS1	Single nucleotide variant (synonymous variant)	FDPS-related disorder	GLikely benign
Select item 3031303	NM_002004.4(FDPS):c.657C>T (p.Tyr219=)	FDPS, RUSC1-AS1	Single nucleotide variant (synonymous variant)	FDPS-related disorder	GLikely benign
Select item 2639403	NM_001105203.2(RUSC1):c.1086G>A (p.Ser362=)	RUSC1, RUSC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639402	NM_001105203.2(RUSC1):c.213C>T (p.Cys71=)	RUSC1, RUSC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617445	NM_002004.4(FDPS):c.650C>A (p.Pro217His)	FDPS, RUSC1-AS1 (P151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553292	NM_002004.4(FDPS):c.1000A>G (p.Ser334Gly)	FDPS, RUSC1-AS1 (S268G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486601	NM_002004.4(FDPS):c.1046A>C (p.Tyr349Ser)	FDPS, RUSC1-AS1 (Y349S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337676	NM_002004.4(FDPS):c.742A>C (p.Asn248His)	FDPS, RUSC1-AS1 (N182H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319478	NM_001105203.2(RUSC1):c.340C>G (p.Pro114Ala)	RUSC1, RUSC1-AS1 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300803	NM_002004.4(FDPS):c.587A>G (p.Asn196Ser)	FDPS, RUSC1-AS1 (N196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234349	NM_002004.4(FDPS):c.869A>C (p.Glu290Ala)	FDPS, RUSC1-AS1 (E119A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 835300	NM_002004.4(FDPS):c.684+2T>G	FDPS, RUSC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 684523	NM_002004.4(FDPS):c.1091T>C (p.Val364Ala)	FDPS, RUSC1-AS1 (V193A +2 more)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign
Select item 217748	NM_002004.4(FDPS):c.684+1G>A	FDPS, RUSC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Porokeratosis 9, multiple types	GPathogenic
Select item 217746	NM_002004.4(FDPS):c.536G>A (p.Arg179Gln)	FDPS, RUSC1-AS1 (R113Q +2 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 9, multiple types	GPathogenic