MOSPD3[gene] - ClinVar

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Items: 35

	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 2527565	NM_023948.5(MOSPD3):c.13G>A (p.Ala5Thr)	MOSPD3 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296422	NM_023948.5(MOSPD3):c.40C>G (p.Pro14Ala)	MOSPD3 (P14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275565	NM_023948.5(MOSPD3):c.50C>G (p.Pro17Arg)	MOSPD3 (P17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602784	NM_023948.5(MOSPD3):c.65G>A (p.Arg22Gln)	MOSPD3 (R22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351190	NM_023948.5(MOSPD3):c.79C>A (p.Pro27Thr)	MOSPD3 (P27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477773	NM_023948.5(MOSPD3):c.118G>A (p.Asp40Asn)	MOSPD3 (D40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325288	NM_023948.5(MOSPD3):c.173A>G (p.Tyr58Cys)	MOSPD3 (Y58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562027	NM_023948.5(MOSPD3):c.233C>T (p.Thr78Met)	MOSPD3 (T78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393034	NM_023948.5(MOSPD3):c.331C>A (p.Arg111Ser)	MOSPD3 (R111S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401670	NM_023948.5(MOSPD3):c.458G>A (p.Arg153His)	MOSPD3 (R143H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2306911	NM_023948.5(MOSPD3):c.535A>G (p.Ser179Gly)	MOSPD3 (S169G +1 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: 35