HIGD1A[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538566	NM_014056.4(HIGD1A):c.262T>C (p.Trp88Arg)	HIGD1A (W102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322855	NM_014056.4(HIGD1A):c.260T>G (p.Phe87Cys)	HIGD1A (F101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475032	NM_014056.4(HIGD1A):c.241T>C (p.Tyr81His)	HIGD1A (Y81H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284288	NM_014056.4(HIGD1A):c.142C>G (p.Leu48Val)	HIGD1A (L48V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105844	NM_014056.4(HIGD1A):c.133T>G (p.Leu45Val)	HIGD1A (L59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307378	NM_014056.4(HIGD1A):c.88G>A (p.Val30Ile)	HIGD1A (V30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347876	NM_014056.4(HIGD1A):c.65G>A (p.Arg22Gln)	HIGD1A (R22Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245176	NM_014056.4(HIGD1A):c.-23+261T>C	HIGD1A (V6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic