LOC123480930[gene] - ClinVar

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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	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 152772	GRCh38/hg38 4q28.1(chr4:127699317-127837482)x1	HSPA4L, INTU +7 more	Copy number loss	See cases	GUncertain significance
Select item 2968811	NM_015693.4(INTU):c.2272-11A>G	INTU, LOC123480930	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2247188	NM_015693.4(INTU):c.2283G>T (p.Lys761Asn)	INTU, LOC123480930 (K761N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964364	NM_015693.4(INTU):c.2283G>A (p.Lys761=)	INTU, LOC123480930	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191556	NM_015693.4(INTU):c.2302C>A (p.Pro768Thr)	INTU, LOC123480930 (P768T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928945	NM_015693.4(INTU):c.2309A>G (p.His770Arg)	INTU, LOC123480930 (H770R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544702	NM_015693.4(INTU):c.2320T>C (p.Leu774=)	INTU, LOC123480930	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790015	NM_015693.4(INTU):c.2324A>G (p.Lys775Arg)	INTU, LOC123480930 (K775R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694472	NM_015693.4(INTU):c.2358_2359dup (p.Asn787fs)	INTU, LOC123480930 (N787fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 20 with polydactyly +1 more	GPathogenic
Select item 2804442	NM_015693.4(INTU):c.2361C>T (p.Asn787=)	INTU, LOC123480930	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949849	NM_015693.4(INTU):c.2369+4A>G	INTU, LOC123480930	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266526	NM_015693.4(INTU):c.2369+53G>A	LOC123480930, INTU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260885	NM_015693.4(INTU):c.2369+62A>G	INTU, LOC123480930	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 21