Related gene-specific medical variations for Gene (Select 55051) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301014	NM_017970.4(NRDE2):c.1115G>A (p.Arg372Gln)	LOC125078019, NRDE2 (R372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202064	NM_017970.4(NRDE2):c.1298C>T (p.Ser433Leu)	LOC125078019, NRDE2 (S433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202063	NM_017970.4(NRDE2):c.1141G>T (p.Val381Leu)	LOC125078019, NRDE2 (V381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622185	NM_017970.4(NRDE2):c.62A>G (p.Lys21Arg)	LOC130056269, NRDE2 (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379860	NM_017970.4(NRDE2):c.1130A>G (p.Asn377Ser)	LOC125078019, NRDE2 (N377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297861	NM_002802.3(PSMC1):c.703T>A (p.Leu235Ile)	NRDE2, PSMC1 (L162I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250640	NM_002802.3(PSMC1):c.1057T>C (p.Phe353Leu)	NRDE2, PSMC1 (F280L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2246941	NM_017970.4(NRDE2):c.1325G>A (p.Gly442Glu)	LOC125078019, NRDE2 (G442E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710322	NM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)	NRDE2, PSMC1 (I255T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	GPathogenic