LOC129999350[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 151567	GRCh38/hg38 7q32.2-32.3(chr7:130652821-131101662)x3	LOC129999353, LOC129999354 +40 more	Copy number gain	See cases	GUncertain significance
Select item 2323063	NM_052933.4(TSGA13):c.814A>C (p.Thr272Pro)	LOC129999350, TSGA13 (T272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362077	NM_052933.4(TSGA13):c.795G>T (p.Gln265His)	LOC129999350, TSGA13 (Q265H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283308	NM_052933.4(TSGA13):c.781G>C (p.Gly261Arg)	LOC129999350, TSGA13 (G261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476181	NM_052933.4(TSGA13):c.775C>T (p.Arg259Cys)	LOC129999350, TSGA13 (R259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance