ClinVar for MedGen (Select 934708) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236200	NM_013336.4(SEC61A1):c.806C>T (p.Ser269Leu)	RUVBL1, SEC61A1 (S216L +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperuricemic nephropathy, familial juvenile type 4	GUncertain significance
Select item 2435800	NM_013336.4(SEC61A1):c.299T>C (p.Ile100Thr)	SEC61A1 (I100T +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4 +1 more	GUncertain significance
Select item 1804890	NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe)	SEC61A1 (L36F +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GLikely pathogenic
Select item 1686175	NM_013336.4(SEC61A1):c.186C>A (p.Phe62Leu)	SEC61A1 (F62L +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GPathogenic
Select item 1341817	NM_013336.4(SEC61A1):c.616+7G>A	SEC61A1	Single nucleotide variant (intron variant)	Hyperuricemic nephropathy, familial juvenile type 4	GUncertain significance
Select item 1170774	NM_013336.4(SEC61A1):c.784C>A (p.Arg262=)	RUVBL1, SEC61A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 289815	NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)	ABCG5 (A98G)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 253147	NM_013336.4(SEC61A1):c.200T>G (p.Val67Gly)	SEC61A1 (V67G)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GPathogenic
Select item 253146	NM_013336.4(SEC61A1):c.553A>G (p.Thr185Ala)	SEC61A1 (T185A)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GPathogenic