SDAD1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC116158500, LOC116158501 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 2283607	NM_018115.4(SDAD1):c.2056A>G (p.Met686Val)	SDAD1 (M686V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158860	NM_018115.4(SDAD1):c.2018T>G (p.Leu673Trp)	SDAD1 (L673W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559458	NM_018115.4(SDAD1):c.1999T>A (p.Ser667Thr)	SDAD1 (S667T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158859	NM_018115.4(SDAD1):c.1982G>A (p.Arg661Gln)	SDAD1 (R624Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158858	NM_018115.4(SDAD1):c.1961T>C (p.Met654Thr)	SDAD1 (M557T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287754	NM_018115.4(SDAD1):c.1934A>G (p.Lys645Arg)	SDAD1 (K645R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158857	NM_018115.4(SDAD1):c.1919C>T (p.Ser640Leu)	SDAD1 (S640L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158856	NM_018115.4(SDAD1):c.1841T>G (p.Leu614Arg)	SDAD1 (L614R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372247	NM_018115.4(SDAD1):c.1801C>T (p.Arg601Cys)	SDAD1 (R504C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221451	NM_018115.4(SDAD1):c.1717G>A (p.Gly573Arg)	SDAD1 (G536R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773696	NM_018115.4(SDAD1):c.1713C>G (p.Ala571=)	SDAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598274	NM_018115.4(SDAD1):c.1633A>G (p.Ile545Val)	SDAD1 (I508V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2654828	NM_018115.4(SDAD1):c.1604T>C (p.Met535Thr)	SDAD1 (M438T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2278041	NM_018115.4(SDAD1):c.1597A>G (p.Met533Val)	SDAD1 (M533V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243466	NM_018115.4(SDAD1):c.1426A>C (p.Ile476Leu)	SDAD1 (I379L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318187	NM_018115.4(SDAD1):c.1388G>C (p.Arg463Thr)	SDAD1 (R463T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484226	NM_018115.4(SDAD1):c.1309C>A (p.His437Asn)	SDAD1 (H340N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158855	NM_018115.4(SDAD1):c.1229C>G (p.Thr410Ser)	SDAD1 (T373S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158854	NM_018115.4(SDAD1):c.1192A>G (p.Ile398Val)	SDAD1 (I301V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158853	NM_018115.4(SDAD1):c.1129G>A (p.Val377Met)	SDAD1 (V340M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406430	NM_018115.4(SDAD1):c.1001A>G (p.Asn334Ser)	SDAD1 (N237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735607	NM_018115.4(SDAD1):c.988-10C>A	SDAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2294132	NM_018115.4(SDAD1):c.964T>G (p.Ser322Ala)	SDAD1 (S322A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158864	NM_018115.4(SDAD1):c.830A>G (p.Lys277Arg)	SDAD1 (K277R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520378	NM_018115.4(SDAD1):c.754A>G (p.Thr252Ala)	SDAD1 (T155A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158863	NM_018115.4(SDAD1):c.699C>G (p.Asp233Glu)	SDAD1 (D136E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605395	NM_018115.4(SDAD1):c.649G>T (p.Ala217Ser)	SDAD1 (A217S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755906	NM_018115.4(SDAD1):c.640T>C (p.Leu214=)	SDAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217523	NM_018115.4(SDAD1):c.599A>G (p.Asn200Ser)	SDAD1 (N200S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293395	NM_018115.4(SDAD1):c.449C>A (p.Ala150Glu)	SDAD1 (A113E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293394	NM_018115.4(SDAD1):c.448G>A (p.Ala150Thr)	SDAD1 (A53T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475875	NM_018115.4(SDAD1):c.436A>C (p.Lys146Gln)	SDAD1 (K146Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454216	NM_018115.4(SDAD1):c.386A>G (p.His129Arg)	SDAD1 (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158861	NM_018115.4(SDAD1):c.337A>G (p.Ile113Val)	SDAD1 (I113V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313733	NM_018115.4(SDAD1):c.201T>G (p.Ser67Arg)	SDAD1, SDAD1-AS1 (S67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285774	NM_018115.4(SDAD1):c.106A>G (p.Asn36Asp)	SDAD1, SDAD1-AS1 (N36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729521	NM_018115.4(SDAD1):c.96A>G (p.Leu32=)	SDAD1, SDAD1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3158862	NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu)	SDAD1, SDAD1-AS1 (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525553	NM_018115.4(SDAD1):c.21C>G (p.Asn7Lys)	SDAD1, SDAD1-AS1 (N7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 1808146	GRCh37/hg19 4q21.1(chr4:76872306-77038327)x1	ART3, CXCL10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980097	GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3	ART3, USO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562934	GRCh37/hg19 4q21.1(chr4:76770579-76998151)x3	ART3, CXCL9 +5 more	Copy number gain	not provided	GLikely benign
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 68