"GeneDx"[submitter] AND "LOC126807322"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 1186434	NM_007118.4(TRIO):c.4859+200G>A	LOC126807322, TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309783	NM_007118.4(TRIO):c.4874T>C (p.Leu1625Pro)	LOC126807322, TRIO (L1625P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446225	NM_007118.4(TRIO):c.4883A>C (p.Gln1628Pro)	LOC126807322, TRIO (Q1628P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372518	NM_007118.4(TRIO):c.4885G>A (p.Gly1629Arg)	LOC126807322, TRIO (G1629R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252267	NM_007118.4(TRIO):c.4902G>T (p.Gln1634His)	LOC126807322, TRIO (Q1634H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683889	NM_007118.4(TRIO):c.4918A>G (p.Ile1640Val)	LOC126807322, TRIO (I1640V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321560	NM_007118.4(TRIO):c.4921G>A (p.Ala1641Thr)	LOC126807322, TRIO (A1641T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1675286	NM_007118.4(TRIO):c.4931C>T (p.Thr1644Met)	LOC126807322, TRIO (T1644M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342792	NM_007118.4(TRIO):c.4949A>G (p.Asp1650Gly)	LOC126807322, TRIO (D1650G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance