SPATA9[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +41 more	Copy number gain	See cases	GLikely benign
Select item 2387430	NM_001131066.2(RFESD):c.250A>G (p.Arg84Gly)	RFESD, SPATA9 (R31G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388304	NM_001131066.2(RFESD):c.317T>C (p.Met106Thr)	RFESD, SPATA9 (M106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464786	NM_001131066.2(RFESD):c.325C>T (p.Arg109Cys)	RFESD, SPATA9 (R109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257218	NM_001131066.2(RFESD):c.325C>A (p.Arg109Ser)	RFESD, SPATA9 (R109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279221	NM_001131066.2(RFESD):c.400C>T (p.Pro134Ser)	RFESD, SPATA9 (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367480	NM_001131066.2(RFESD):c.401C>G (p.Pro134Arg)	RFESD, SPATA9 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153372	NM_001131066.2(RFESD):c.416A>G (p.Lys139Arg)	RFESD, SPATA9 (K86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153373	NM_001131066.2(RFESD):c.554C>A (p.Thr185Asn)	RFESD, SPATA9 (T132N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531505	NM_031952.4(SPATA9):c.750G>C (p.Met250Ile)	SPATA9 (M222I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312188	NM_031952.4(SPATA9):c.713A>C (p.Gln238Pro)	SPATA9 (Q210P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556561	NM_031952.4(SPATA9):c.665T>C (p.Ile222Thr)	SPATA9 (I194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168653	NM_031952.4(SPATA9):c.586C>A (p.Pro196Thr)	SPATA9 (P168T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655595	NM_031952.4(SPATA9):c.585G>A (p.Glu195=)	SPATA9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3168652	NM_031952.4(SPATA9):c.575C>A (p.Ala192Asp)	SPATA9 (A164D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389109	NM_031952.4(SPATA9):c.533C>A (p.Ser178Tyr)	SPATA9 (S150Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250896	NM_031952.4(SPATA9):c.493G>A (p.Val165Met)	SPATA9 (V137M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560250	NM_031952.4(SPATA9):c.482G>C (p.Cys161Ser)	SPATA9 (C161S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457569	NM_031952.4(SPATA9):c.479T>A (p.Val160Asp)	SPATA9 (V132D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466466	NM_031952.4(SPATA9):c.376C>A (p.Gln126Lys)	SPATA9 (Q98K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315888	NM_031952.4(SPATA9):c.367T>A (p.Tyr123Asn)	SPATA9 (Y95N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168651	NM_031952.4(SPATA9):c.353C>T (p.Pro118Leu)	SPATA9 (P90L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562813	NM_031952.4(SPATA9):c.349G>A (p.Ala117Thr)	SPATA9 (A89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459254	NM_031952.4(SPATA9):c.337A>G (p.Arg113Gly)	SPATA9 (R85G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550246	NM_031952.4(SPATA9):c.265G>C (p.Val89Leu)	SPATA9 (V61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471605	NM_031952.4(SPATA9):c.213T>A (p.Asn71Lys)	SPATA9 (N71K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168649	NM_031952.4(SPATA9):c.164C>T (p.Ala55Val)	SPATA9 (A27V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253658	NM_014899.4(RHOBTB3):c.112G>A (p.Asp38Asn)	RHOBTB3, SPATA9 (D38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814714	GRCh37/hg19 5q15(chr5:94952542-95069744)x1	RFESD, SPATA9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSF1R +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 57