NXPH4[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 2256591	NM_007224.4(NXPH4):c.134C>T (p.Ala45Val)	LOC130008123, NXPH4 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301748	NM_007224.4(NXPH4):c.136C>G (p.Pro46Ala)	LOC130008123, NXPH4 (P46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203561	NM_007224.4(NXPH4):c.247G>A (p.Ala83Thr)	LOC130008123, NXPH4 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203562	NM_007224.4(NXPH4):c.248C>A (p.Ala83Asp)	LOC130008123, NXPH4 (A83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490087	NM_007224.4(NXPH4):c.298G>A (p.Ala100Thr)	NXPH4 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643130	NM_007224.4(NXPH4):c.504G>C (p.Leu168=)	NXPH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390170	NM_007224.4(NXPH4):c.508G>C (p.Gly170Arg)	NXPH4 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213986	NM_007224.4(NXPH4):c.541G>C (p.Ala181Pro)	NXPH4 (A181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385639	NM_007224.4(NXPH4):c.571C>A (p.Pro191Thr)	NXPH4 (P191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203563	NM_007224.4(NXPH4):c.596C>A (p.Ala199Glu)	NXPH4 (A199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467838	NM_007224.4(NXPH4):c.631G>T (p.Ala211Ser)	NXPH4 (A211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230480	NM_007224.4(NXPH4):c.682T>G (p.Ser228Ala)	NXPH4 (S228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390243	NM_007224.4(NXPH4):c.683C>T (p.Ser228Leu)	NXPH4 (S228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330255	NM_007224.4(NXPH4):c.686G>A (p.Arg229His)	NXPH4 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301747	NM_007224.4(NXPH4):c.822C>A (p.Phe274Leu)	NXPH4 (F274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643131	NM_007224.4(NXPH4):c.843C>G (p.Val281=)	NXPH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
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

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Items: 27