"GeneDx"[submitter] AND "LRIT3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance
Select item 450894	NM_198506.5(LRIT3):c.136A>G (p.Met46Val)	LRIT3 (M46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347181	NM_198506.5(LRIT3):c.168C>T (p.Pro56=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 195438	NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly)	LRIT3 (R111G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1015997	NM_198506.5(LRIT3):c.345T>A (p.Asn115Lys)	LRIT3 (N115K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347182	NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr)	LRIT3 (P169T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 195437	NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn)	LRIT3 (S175N)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1F +3 more	GBenign
Select item 195439	NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe)	LRIT3 (L189F)	Single nucleotide variant (missense variant)	Congenital Stationary Night Blindness, Recessive +2 more	GBenign/Likely benign
Select item 1241011	NM_198506.5(LRIT3):c.589+50A>G	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221202	NM_198506.5(LRIT3):c.590-58G>A	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227180	NM_198506.5(LRIT3):c.895+39C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270412	NM_198506.5(LRIT3):c.896-176T>C	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294856	NM_198506.5(LRIT3):c.896-167C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197397	NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu)	LRIT3 (M336L)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1F +3 more	GBenign
Select item 347195	NM_198506.5(LRIT3):c.1456G>A (p.Ala486Thr)	LRIT3 (A486T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 347196	NM_198506.5(LRIT3):c.1508C>T (p.Thr503Met)	LRIT3 (T503M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 197398	NM_198506.5(LRIT3):c.1509G>A (p.Thr503=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 347197	NM_198506.5(LRIT3):c.1548T>C (p.Thr516=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 347198	NM_198506.5(LRIT3):c.1638C>T (p.Pro546=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21