HIGD1C[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152631	GRCh38/hg38 12q13.12(chr12:50600204-50953386)x3	ATF1, DIP2B +14 more	Copy number gain	See cases	GUncertain significance
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2463943	NM_001109619.4(HIGD1C):c.53G>A (p.Arg18Gln)	HIGD1C, SLC11A2 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462836	NM_001109619.4(HIGD1C):c.91A>G (p.Ile31Val)	HIGD1C, SLC11A2 (I31V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105848	NM_001109619.4(HIGD1C):c.104G>A (p.Gly35Asp)	HIGD1C, SLC11A2 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510306	NM_001109619.4(HIGD1C):c.118G>C (p.Val40Leu)	HIGD1C, SLC11A2 (V40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238352	NM_001109619.4(HIGD1C):c.149G>A (p.Arg50Lys)	HIGD1C, SLC11A2 (R50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211228	NM_001109619.4(HIGD1C):c.191T>C (p.Val64Ala)	HIGD1C, SLC11A2 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528054	NM_001109619.4(HIGD1C):c.232G>A (p.Val78Ile)	HIGD1C, SLC11A2 (V78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284289	NM_001109619.4(HIGD1C):c.269G>A (p.Arg90Gln)	HIGD1C, SLC11A2 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic