Related gene-specific medical variations for Gene (Select 440699) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291689	NM_001005214.4(LRRC52):c.112A>G (p.Ile38Val)	LRRC52, LRRC52-AS1 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291688	NM_001005214.4(LRRC52):c.524C>T (p.Thr175Ile)	LRRC52, LRRC52-AS1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291687	NM_001005214.4(LRRC52):c.491C>G (p.Thr164Ser)	LRRC52, LRRC52-AS1 (T164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120807	NM_001005214.4(LRRC52):c.62T>G (p.Val21Gly)	LRRC52, LRRC52-AS1 (V21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120806	NM_001005214.4(LRRC52):c.316C>T (p.Leu106Phe)	LRRC52, LRRC52-AS1 (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603130	NM_001005214.4(LRRC52):c.698G>A (p.Arg233Gln)	LRRC52, LRRC52-AS1 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550733	NM_001005214.4(LRRC52):c.7C>A (p.Leu3Ile)	LRRC52, LRRC52-AS1 (L3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512602	NM_001005214.4(LRRC52):c.11C>T (p.Ala4Val)	LRRC52, LRRC52-AS1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485592	NM_001005214.4(LRRC52):c.773C>T (p.Ala258Val)	LRRC52, LRRC52-AS1 (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409453	NM_001005214.4(LRRC52):c.269G>A (p.Arg90Gln)	LRRC52, LRRC52-AS1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357034	NM_001005214.4(LRRC52):c.914C>T (p.Ser305Leu)	LRRC52, LRRC52-AS1 (S305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339163	NM_001005214.4(LRRC52):c.772G>A (p.Ala258Thr)	LRRC52, LRRC52-AS1 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323367	NM_001005214.4(LRRC52):c.889C>T (p.Arg297Trp)	LRRC52, LRRC52-AS1 (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205777	NM_001005214.4(LRRC52):c.136G>A (p.Glu46Lys)	LRRC52, LRRC52-AS1 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783012	NM_001005214.4(LRRC52):c.829C>T (p.Arg277Cys)	LRRC52, LRRC52-AS1 (R277C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714609	NM_001005214.4(LRRC52):c.345G>C (p.Ser115=)	LRRC52, LRRC52-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign