FAM177A1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092064	NM_173607.5(FAM177A1):c.81G>T (p.Glu27Asp)	FAM177A1 (E27D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238931	NM_173607.5(FAM177A1):c.83C>T (p.Pro28Leu)	FAM177A1 (P28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339244	NM_173607.5(FAM177A1):c.172A>G (p.Asn58Asp)	FAM177A1 (N35D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729468	NM_173607.5(FAM177A1):c.174C>T (p.Asn58=)	FAM177A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3092061	NM_173607.5(FAM177A1):c.196G>A (p.Glu66Lys)	FAM177A1 (E43K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092062	NM_173607.5(FAM177A1):c.338C>T (p.Pro113Leu)	FAM177A1 (P90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554571	NM_173607.5(FAM177A1):c.359C>T (p.Pro120Leu)	FAM177A1 (P97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686831	NM_173607.5(FAM177A1):c.366_367dup (p.Trp123fs)	FAM177A1 (W100fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 183348	NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)	FAM177A1 (W123fs +1 more)	Duplication (frameshift variant)	Macrocephaly +3 more	GLikely pathogenic
Select item 2570203	NM_173607.5(FAM177A1):c.383G>A (p.Arg128Gln)	FAM177A1 (R105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275882	NM_173607.5(FAM177A1):c.439G>C (p.Val147Leu)	FAM177A1 (V147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092063	NM_173607.5(FAM177A1):c.539A>G (p.Glu180Gly)	FAM177A1 (E180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 915989	GRCh37/hg19 14q13.2(chr14:35546356-35546423)	FAM177A1	Copy number loss	Mild obesity +3 more	GUncertain significance