LOC129994614[gene] - ClinVar

	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 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 3192479	NM_001300816.3(ZCCHC10):c.31C>T (p.Arg11Trp)	LOC129994614, ZCCHC10 (R11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192478	NM_001300816.3(ZCCHC10):c.28G>T (p.Ala10Ser)	LOC129994614, ZCCHC10 (A10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192477	NM_001300816.3(ZCCHC10):c.28G>C (p.Ala10Pro)	LOC129994614, ZCCHC10 (A10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334126	NM_001300816.3(ZCCHC10):c.20G>C (p.Arg7Pro)	LOC129994614, ZCCHC10 (R7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar