SAP25[gene] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 3437312	NM_001348680.2(SAP25):c.872C>T (p.Thr291Ile)	SAP25 (T193I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316138	NM_001348680.2(SAP25):c.863T>C (p.Leu288Pro)	SAP25 (L281P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316137	NM_001348680.2(SAP25):c.829A>G (p.Ser277Gly)	SAP25 (S179G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157783	NM_001348680.2(SAP25):c.810C>A (p.Asp270Glu)	SAP25 (D270E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568679	NM_001348680.2(SAP25):c.776C>G (p.Ser259Cys)	SAP25 (S161C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3437306	NM_001348680.2(SAP25):c.713G>A (p.Gly238Glu)	SAP25 (G231E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3437308	NM_001348680.2(SAP25):c.688G>A (p.Gly230Ser)	SAP25 (G132S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3437310	NM_001348680.2(SAP25):c.679C>T (p.Pro227Ser)	SAP25 (P227S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298443	NM_001348680.2(SAP25):c.671G>A (p.Arg224His)	SAP25 (R217H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261195	NM_001348680.2(SAP25):c.612G>A (p.Met204Ile)	SAP25 (M106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292902	NM_001348680.2(SAP25):c.608A>C (p.Gln203Pro)	SAP25 (Q105P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208641	NM_001348680.2(SAP25):c.575G>A (p.Arg192His)	SAP25 (R185H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602522	NM_001348680.2(SAP25):c.574C>T (p.Arg192Cys)	SAP25 (R94C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522909	NM_001348680.2(SAP25):c.566G>A (p.Arg189Gln)	SAP25 (R182Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521523	NM_001348680.2(SAP25):c.566G>C (p.Arg189Pro)	SAP25 (R182P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514813	NM_001348680.2(SAP25):c.565C>T (p.Arg189Trp)	SAP25 (R182W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732372	NM_001348680.2(SAP25):c.549G>C (p.Ser183=)	SAP25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3437307	NM_001348680.2(SAP25):c.548C>T (p.Ser183Leu)	SAP25 (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3437311	NM_001348680.2(SAP25):c.523G>T (p.Val175Leu)	SAP25 (V175L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534983	NM_001348680.2(SAP25):c.491A>G (p.Gln164Arg)	SAP25 (Q164R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464628	NM_001348680.2(SAP25):c.460G>A (p.Val154Met)	SAP25 (V147M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358088	NM_001348680.2(SAP25):c.398C>T (p.Thr133Met)	SAP25 (T133M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398247	NM_001348680.2(SAP25):c.395G>A (p.Arg132Gln)	SAP25 (R125Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377009	NM_001348680.2(SAP25):c.383C>T (p.Ser128Leu)	SAP25 (S30L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470860	NM_001348680.2(SAP25):c.346C>T (p.Arg116Trp)	SAP25 (R109W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357622	NM_001348680.2(SAP25):c.322A>G (p.Lys108Glu)	SAP25 (K108E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	LRCH4, LRRD1 +127 more	Copy number gain	Transverse facial cleft +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	SNORA5C, SNX10 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51