"GeneDx"[submitter] AND "LOC100130744"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 351499	NM_054027.6(ANKH):c.1338C>T (p.Ile446=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351500	NM_054027.6(ANKH):c.1332C>T (p.Val444=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 3343714	NM_054027.6(ANKH):c.1292G>A (p.Gly431Asp)	ANKH, LOC100130744 +1 more (G431D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1312843	NM_054027.6(ANKH):c.1288G>A (p.Val430Met)	ANKH, LOC100130744 +1 more (V430M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1186471	NM_054027.6(ANKH):c.1287C>A (p.Gly429=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 743006	NM_054027.6(ANKH):c.1266-6C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 1196091	NM_054027.6(ANKH):c.1266-231G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1213644	NM_054027.6(ANKH):c.1266-263G>A	OTULIN, ANKH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1201139	NM_054027.6(ANKH):c.1265+198G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 351503	NM_054027.6(ANKH):c.1265+6T>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign
Select item 283343	NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)	ANKH, LOC100130744 +1 more (A413T)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign/Likely benign
Select item 5193	NM_054027.6(ANKH):c.1142-4A>G	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1216918	NM_054027.6(ANKH):c.1142-321G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202854	NM_054027.6(ANKH):c.1141+190TATT[8]	ANKH, LOC100130744 +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1296862	NM_054027.6(ANKH):c.1141+190TATT[5]	ANKH, LOC100130744 +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign