SAP25[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 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 2568679	NM_001348680.2(SAP25):c.776C>G (p.Ser259Cys)	SAP25 (S161C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298443	NM_001348680.2(SAP25):c.671G>A (p.Arg224His)	SAP25 (R217H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261195	NM_001348680.2(SAP25):c.612G>A (p.Met204Ile)	SAP25 (M106I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292902	NM_001348680.2(SAP25):c.608A>C (p.Gln203Pro)	SAP25 (Q105P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208641	NM_001348680.2(SAP25):c.575G>A (p.Arg192His)	SAP25 (R185H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602522	NM_001348680.2(SAP25):c.574C>T (p.Arg192Cys)	SAP25 (R94C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522909	NM_001348680.2(SAP25):c.566G>A (p.Arg189Gln)	SAP25 (R182Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521523	NM_001348680.2(SAP25):c.566G>C (p.Arg189Pro)	SAP25 (R182P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514813	NM_001348680.2(SAP25):c.565C>T (p.Arg189Trp)	SAP25 (R182W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2534983	NM_001348680.2(SAP25):c.491A>G (p.Gln164Arg)	SAP25 (Q164R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464628	NM_001348680.2(SAP25):c.460G>A (p.Val154Met)	SAP25 (V147M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358088	NM_001348680.2(SAP25):c.398C>T (p.Thr133Met)	SAP25 (T133M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398247	NM_001348680.2(SAP25):c.395G>A (p.Arg132Gln)	SAP25 (R125Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377009	NM_001348680.2(SAP25):c.383C>T (p.Ser128Leu)	SAP25 (S30L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470860	NM_001348680.2(SAP25):c.346C>T (p.Arg116Trp)	SAP25 (R109W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357622	NM_001348680.2(SAP25):c.322A>G (p.Lys108Glu)	SAP25 (K108E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	TRAPPC14, TRIM4 +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	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 41