Related gene-specific medical variations for Gene (Select 51430) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171954	NM_014283.5(SUCO):c.32T>G (p.Val11Gly)	LOC129931914, SUCO (V206G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059036	NM_014283.5(SUCO):c.-236T>C	LOC129931913, SUCO (L117P)	Single nucleotide variant (5 prime UTR variant +1 more)	SUCO-related disorder	GBenign
Select item 3038917	NM_014283.5(SUCO):c.-264A>T	LOC129931913, SUCO	Single nucleotide variant (5 prime UTR variant +1 more)	SUCO-related disorder	GBenign
Select item 3014128	NM_014283.5(SUCO):c.62+18C>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759728	NM_014283.5(SUCO):c.62+10C>G	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729440	NM_014283.5(SUCO):c.31G>A (p.Val11Ile)	LOC129931914, SUCO (V11I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174926	NM_014283.5(SUCO):c.62+16_62+18del	LOC129931914, SUCO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2162925	NM_014283.5(SUCO):c.62+13G>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111134	NM_014283.5(SUCO):c.61T>C (p.Trp21Arg)	LOC129931914, SUCO (W216R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1637687	NM_014283.5(SUCO):c.42C>T (p.Leu14=)	LOC129931914, SUCO	Single nucleotide variant (synonymous variant +1 more)	SUCO-related disorder +1 more	GBenign/Likely benign
Select item 1532769	NM_014283.5(SUCO):c.62+15C>A	LOC129931914, SUCO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 979307	GRCh37/hg19 1q24.3(chr1:172477803-172541996)x1	SUCO	Copy number loss	not provided	GUncertain significance