LOC126807536[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147800	GRCh38/hg38 5q31.3(chr5:144019753-144858721)x3	KCTD16, LOC126807536 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2352227	NM_030799.9(YIPF5):c.364A>G (p.Met122Val)	LOC126807536, YIPF5 (M122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191521	NM_030799.9(YIPF5):c.328G>A (p.Val110Ile)	LOC126807536, YIPF5 (V110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064543	NM_030799.9(YIPF5):c.317_319del (p.Lys106del)	LOC126807536, YIPF5 (K106del +1 more)	Deletion (inframe_deletion)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 2477096	NM_030799.9(YIPF5):c.303C>G (p.Asp101Glu)	LOC126807536, YIPF5 (D101E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064544	NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser)	LOC126807536, YIPF5 (I98S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064546	NM_030799.9(YIPF5):c.290G>T (p.Gly97Val)	LOC126807536, YIPF5 (G97V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic