SPATA18[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	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 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 3168224	NM_145263.4(SPATA18):c.5C>T (p.Ala2Val)	SPATA18 (A2V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383698	NM_145263.4(SPATA18):c.173T>C (p.Leu58Pro)	SPATA18 (L58P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2349012	NM_145263.4(SPATA18):c.200G>A (p.Arg67His)	SPATA18 (R67H)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2229816	NM_145263.4(SPATA18):c.314C>T (p.Thr105Met)	SPATA18 (T105M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366562	NM_145263.4(SPATA18):c.394C>T (p.Arg132Trp)	SPATA18 (R132W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549941	NM_145263.4(SPATA18):c.395G>A (p.Arg132Gln)	SPATA18 (R132Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234557	NM_145263.4(SPATA18):c.467C>T (p.Ser156Leu)	SPATA18 (S156L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467992	NM_145263.4(SPATA18):c.550C>G (p.Arg184Gly)	SPATA18 (R184G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250198	NM_145263.4(SPATA18):c.646C>G (p.Gln216Glu)	SPATA18 (Q184E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 714198	NM_145263.4(SPATA18):c.701G>A (p.Arg234Gln)	SPATA18 (R202Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3168225	NM_145263.4(SPATA18):c.721G>T (p.Ala241Ser)	SPATA18 (A241S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348427	NM_145263.4(SPATA18):c.778C>T (p.Pro260Ser)	SPATA18 (P260S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788489	NM_145263.4(SPATA18):c.800G>A (p.Arg267His)	SPATA18 (R130H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2483142	NM_145263.4(SPATA18):c.815G>A (p.Ser272Asn)	SPATA18 (S135N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168226	NM_145263.4(SPATA18):c.865A>G (p.Asn289Asp)	SPATA18 (N64D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249805	NM_145263.4(SPATA18):c.868C>A (p.Arg290Ser)	SPATA18 (R153S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710427	NM_145263.4(SPATA18):c.875A>G (p.Lys292Arg)	SPATA18 (K67R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3168227	NM_145263.4(SPATA18):c.968G>A (p.Arg323His)	SPATA18 (R291H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161809	NM_145263.4(SPATA18):c.991G>A (p.Val331Ile)	SPATA18 (V331I +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2397938	NM_145263.4(SPATA18):c.1000A>G (p.Ile334Val)	SPATA18 (I109V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168220	NM_145263.4(SPATA18):c.1012G>A (p.Ala338Thr)	SPATA18 (A113T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535140	NM_145263.4(SPATA18):c.1024G>C (p.Ala342Pro)	SPATA18 (A205P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168221	NM_145263.4(SPATA18):c.1103C>T (p.Ser368Leu)	SPATA18 (S143L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545153	NM_145263.4(SPATA18):c.1184T>C (p.Val395Ala)	SPATA18 (V395A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552060	NM_145263.4(SPATA18):c.1199A>G (p.Asn400Ser)	SPATA18 (N263S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590605	NM_145263.4(SPATA18):c.1251T>G (p.Ser417Arg)	SPATA18 (S417R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168222	NM_145263.4(SPATA18):c.1330G>A (p.Asp444Asn)	SPATA18 (D219N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362343	NM_145263.4(SPATA18):c.1352G>C (p.Cys451Ser)	SPATA18 (C226S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364690	NM_145263.4(SPATA18):c.1376C>T (p.Ser459Leu)	SPATA18 (S234L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168223	NM_145263.4(SPATA18):c.1493G>A (p.Arg498Gln)	SPATA18 (R466Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280002	NM_145263.4(SPATA18):c.1535G>A (p.Cys512Tyr)	SPATA18 (C375Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371378	NM_145263.4(SPATA18):c.1541G>A (p.Arg514His)	SPATA18 (R482H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263041	NM_145263.4(SPATA18):c.1571G>A (p.Arg524Gln)	SPATA18 (R299Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685967	GRCh37/hg19 4q11-12(chr4:52685980-54252935)x3	DANCR, DCUN1D4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1808104	GRCh37/hg19 4q12(chr4:52886015-53451495)x3	LRRC66, SGCB +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 687293	GRCh37/hg19 4q11-12(chr4:52685685-54040923)x3	DANCR, DCUN1D4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562912	GRCh37/hg19 4q12(chr4:52903470-52927077)x1	SPATA18, SGCB	Copy number loss	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
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: 53