LOC101928553[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 1218422	NM_004522.3(KIF5C):c.127-214del	KIF5C, LOC101928553	Deletion (intron variant)	not provided	GLikely benign
Select item 1223634	NM_004522.3(KIF5C):c.127-74G>A	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246884	NM_004522.3(KIF5C):c.138A>G (p.Pro46=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241543	NM_004522.3(KIF5C):c.155T>C (p.Val52Ala)	KIF5C, LOC101928553 (V52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114956	NM_004522.3(KIF5C):c.179A>G (p.Glu60Gly)	KIF5C, LOC101928553 (E60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3375236	NM_004522.3(KIF5C):c.195A>G (p.Ala65=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1260232	NM_004522.3(KIF5C):c.217+162A>T	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GBenign