101929716[Gene ID] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 3315422	NM_032131.6(ARMC2):c.1078A>G (p.Ser360Gly)	ARMC2, ARMC2-AS1 (S195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315401	NM_032131.6(ARMC2):c.1148G>C (p.Arg383Thr)	ARMC2, ARMC2-AS1 (R218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 627630	NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)	ARMC2, ARMC2-AS1 (K263fs +1 more)	Deletion (frameshift variant)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 3056566	NM_032131.6(ARMC2):c.1314T>C (p.Gly438=)	ARMC2, ARMC2-AS1	Single nucleotide variant (synonymous variant)	ARMC2-related disorder	GBenign