LOC129998698[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 153077	GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1	DTX2, FPASL +8 more	Copy number loss	See cases	GBenign
Select item 2325673	NM_080744.2(SSC4D):c.1295A>G (p.Asn432Ser)	LOC129998698, SSC4D (N432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284021	NM_080744.2(SSC4D):c.1273C>T (p.His425Tyr)	LOC129998698, SSC4D (H425Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409995	NM_080744.2(SSC4D):c.1153G>A (p.Ala385Thr)	LOC129998698, SSC4D (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338019	NM_080744.2(SSC4D):c.1067G>A (p.Arg356His)	LOC129998698, SSC4D (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328599	NM_080744.2(SSC4D):c.1063G>C (p.Gly355Arg)	LOC129998698, SSC4D (G355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607566	NM_080744.2(SSC4D):c.1061G>C (p.Arg354Pro)	LOC129998698, SSC4D (R354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400984	NM_080744.2(SSC4D):c.1023T>G (p.Ser341Arg)	LOC129998698, SSC4D (S341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343986	NM_080744.2(SSC4D):c.1001C>T (p.Ala334Val)	LOC129998698, SSC4D (A334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245150	NM_080744.2(SSC4D):c.1000G>A (p.Ala334Thr)	LOC129998698, SSC4D (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23