SPATA20[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2344046	NM_022827.4(SPATA20):c.13C>T (p.Arg5Trp)	LOC130061173, SPATA20 (R5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343930	NM_022827.4(SPATA20):c.14G>C (p.Arg5Pro)	LOC130061173, SPATA20 (R5P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168262	NM_022827.4(SPATA20):c.23T>C (p.Leu8Ser)	LOC130061173, SPATA20 (L8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168263	NM_022827.4(SPATA20):c.34C>T (p.Leu12Phe)	LOC130061173, SPATA20 (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373196	NM_022827.4(SPATA20):c.155G>A (p.Ser52Asn)	SPATA20 (S36N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168259	NM_022827.4(SPATA20):c.233C>T (p.Pro78Leu)	SPATA20 (P78L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321872	NM_022827.4(SPATA20):c.238C>T (p.Arg80Cys)	SPATA20 (R80C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456073	NM_022827.4(SPATA20):c.248A>G (p.His83Arg)	SPATA20 (H67R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340822	NM_022827.4(SPATA20):c.249C>G (p.His83Gln)	SPATA20 (H83Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362297	NM_022827.4(SPATA20):c.281A>G (p.Tyr94Cys)	SPATA20 (Y34C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647894	NM_022827.4(SPATA20):c.283A>G (p.Asn95Asp)	SPATA20 (N35D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2359584	NM_022827.4(SPATA20):c.368A>G (p.Tyr123Cys)	SPATA20 (Y107C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234064	NM_022827.4(SPATA20):c.425T>C (p.Ile142Thr)	SPATA20 (I142T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381143	NM_022827.4(SPATA20):c.430C>T (p.Arg144Cys)	SPATA20 (R84C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615653	NM_022827.4(SPATA20):c.479G>A (p.Arg160Gln)	SPATA20 (R100Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168264	NM_022827.4(SPATA20):c.511G>A (p.Val171Met)	SPATA20 (V111M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321871	NM_022827.4(SPATA20):c.523A>G (p.Ser175Gly)	SPATA20 (S159G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569867	NM_022827.4(SPATA20):c.532G>A (p.Gly178Arg)	SPATA20 (G178R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614701	NM_022827.4(SPATA20):c.701G>A (p.Arg234His)	SPATA20 (R218H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467050	NM_022827.4(SPATA20):c.725G>A (p.Arg242Gln)	SPATA20 (R182Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234066	NM_022827.4(SPATA20):c.742G>A (p.Gly248Ser)	SPATA20 (G188S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588370	NM_022827.4(SPATA20):c.769G>A (p.Ala257Thr)	SPATA20 (A241T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400901	NM_022827.4(SPATA20):c.785G>A (p.Arg262His)	SPATA20 (R202H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321875	NM_022827.4(SPATA20):c.802G>C (p.Asp268His)	SPATA20 (D208H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321868	NM_022827.4(SPATA20):c.809G>T (p.Gly270Val)	SPATA20 (G254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168265	NM_022827.4(SPATA20):c.860C>T (p.Pro287Leu)	SPATA20 (P287L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168266	NM_022827.4(SPATA20):c.917G>C (p.Gly306Ala)	SPATA20 (G290A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610604	NM_022827.4(SPATA20):c.922C>T (p.Arg308Trp)	SPATA20 (R292W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168267	NM_022827.4(SPATA20):c.925G>T (p.Ala309Ser)	SPATA20 (A249S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399643	NM_022827.4(SPATA20):c.971G>A (p.Gly324Asp)	SPATA20 (G264D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168268	NM_022827.4(SPATA20):c.985G>A (p.Val329Met)	SPATA20 (V269M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349047	NM_022827.4(SPATA20):c.1018C>T (p.Arg340Cys)	SPATA20 (R324C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321869	NM_022827.4(SPATA20):c.1072G>A (p.Ala358Thr)	SPATA20 (A342T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462249	NM_022827.4(SPATA20):c.1156C>T (p.Arg386Trp)	SPATA20 (R326W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168246	NM_022827.4(SPATA20):c.1192G>A (p.Ala398Thr)	SPATA20 (A382T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597627	NM_022827.4(SPATA20):c.1226A>G (p.Gln409Arg)	SPATA20 (Q393R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538187	NM_022827.4(SPATA20):c.1234A>G (p.Lys412Glu)	SPATA20 (K396E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168247	NM_022827.4(SPATA20):c.1243G>A (p.Ala415Thr)	SPATA20 (A355T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168248	NM_022827.4(SPATA20):c.1286C>T (p.Pro429Leu)	SPATA20 (P429L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553881	NM_022827.4(SPATA20):c.1291C>T (p.Pro431Ser)	SPATA20 (P371S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321873	NM_022827.4(SPATA20):c.1316T>C (p.Leu439Pro)	SPATA20 (L423P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168249	NM_022827.4(SPATA20):c.1331T>G (p.Leu444Arg)	SPATA20 (L384R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168250	NM_022827.4(SPATA20):c.1423G>C (p.Val475Leu)	SPATA20 (V415L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388191	NM_022827.4(SPATA20):c.1427G>A (p.Arg476Gln)	SPATA20 (R416Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337655	NM_022827.4(SPATA20):c.1493A>G (p.Asn498Ser)	SPATA20 (N498S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321870	NM_022827.4(SPATA20):c.1541C>A (p.Pro514Gln)	SPATA20 (P514Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241886	NM_022827.4(SPATA20):c.1552A>G (p.Ser518Gly)	SPATA20 (S458G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245243	NM_022827.4(SPATA20):c.1633A>G (p.Ile545Val)	SPATA20 (I545V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168251	NM_022827.4(SPATA20):c.1649A>G (p.Asn550Ser)	SPATA20 (N550S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386734	NM_022827.4(SPATA20):c.1670G>A (p.Arg557Gln)	SPATA20 (R557Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288134	NM_022827.4(SPATA20):c.1697G>A (p.Arg566His)	SPATA20 (R506H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168252	NM_022827.4(SPATA20):c.1706G>A (p.Arg569Gln)	SPATA20 (R509Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254212	NM_022827.4(SPATA20):c.1727G>T (p.Gly576Val)	SPATA20 (G516V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168253	NM_022827.4(SPATA20):c.1793G>A (p.Arg598Gln)	SPATA20 (R538Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396652	NM_022827.4(SPATA20):c.1815G>C (p.Glu605Asp)	SPATA20 (E605D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213975	NM_022827.4(SPATA20):c.1823A>T (p.Gln608Leu)	SPATA20 (Q592L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374851	NM_022827.4(SPATA20):c.1832C>T (p.Ala611Val)	SPATA20 (A611V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297232	NM_022827.4(SPATA20):c.1865C>T (p.Thr622Ile)	SPATA20 (T606I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343528	NM_022827.4(SPATA20):c.1919C>T (p.Ala640Val)	SPATA20 (A640V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337105	NM_022827.4(SPATA20):c.1946G>A (p.Arg649His)	SPATA20 (R633H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321874	NM_022827.4(SPATA20):c.1981G>T (p.Ala661Ser)	SPATA20 (A661S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168254	NM_022827.4(SPATA20):c.2089C>G (p.Arg697Gly)	SPATA20 (R637G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168255	NM_022827.4(SPATA20):c.2090G>A (p.Arg697His)	SPATA20 (R637H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352354	NM_022827.4(SPATA20):c.2099C>T (p.Pro700Leu)	SPATA20 (P700L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168256	NM_022827.4(SPATA20):c.2125G>A (p.Ala709Thr)	SPATA20 (A649T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168257	NM_022827.4(SPATA20):c.2144A>G (p.Gln715Arg)	SPATA20 (Q655R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168258	NM_022827.4(SPATA20):c.2158A>G (p.Ile720Val)	SPATA20 (I660V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480121	NM_022827.4(SPATA20):c.2161G>A (p.Val721Met)	SPATA20 (V661M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321876	NM_022827.4(SPATA20):c.2212G>A (p.Val738Ile)	SPATA20 (V738I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234747	NM_022827.4(SPATA20):c.2219C>T (p.Ser740Phe)	SPATA20 (S740F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168260	NM_022827.4(SPATA20):c.2344G>A (p.Glu782Lys)	SPATA20 (E766K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525182	NM_022827.4(SPATA20):c.2368A>G (p.Ile790Val)	SPATA20 (I774V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589482	NM_022827.4(SPATA20):c.2383G>A (p.Glu795Lys)	SPATA20 (E795K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168261	NM_022827.4(SPATA20):c.2390G>A (p.Arg797Gln)	SPATA20 (R797Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 85