SPATA6L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	LOC130001516, LOC130001517 +217 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155570	GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1	AK3, CDC37L1 +125 more	Copy number loss	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153821	GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	AK3, BRD10 +223 more	Copy number loss	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 154749	GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3	LOC130001462, LOC130001463 +119 more	Copy number gain	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	AK3, BRD10 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	LOC130001526, LOC130001527 +247 more	Copy number loss	See cases	GPathogenic
Select item 151712	GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1	LOC130001462, LOC130001463 +183 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 149059	GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148677	GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 148381	GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	AK3, BRD10 +224 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	AK3, BRD10 +233 more	Copy number gain	See cases	GPathogenic
Select item 148301	GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148264	GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3	AK3, CDC37L1 +131 more	Copy number gain	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 146231	GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	LOC130001441, LOC130001442 +215 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	RCL1, RFX3 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 151916	GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	AK3, BRD10 +217 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 60440	GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1	AK3, BRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 154621	GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	AK3, BRD10 +213 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	LOC121331319, LOC121740737 +222 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59065	GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	LOC124210609, LOC124210610 +210 more	Copy number loss	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 59062	GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	LOC130001490, LOC130001491 +172 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57027	GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	AK3, BRD10 +204 more	Copy number gain	See cases	GPathogenic
Select item 147561	GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3	AK3, BRD10 +153 more	Copy number gain	See cases	GPathogenic
Select item 147623	GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1	AK3, BRD10 +144 more	Copy number loss	See cases	GPathogenic
Select item 2255990	NM_001353486.2(SPATA6L):c.1147A>C (p.Lys383Gln)	SPATA6L (K274Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322525	NM_001353486.2(SPATA6L):c.1103C>T (p.Ser368Phe)	SPATA6L (S335F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393340	NM_001353486.2(SPATA6L):c.1086C>G (p.Asn362Lys)	SPATA6L (N253K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168641	NM_001353486.2(SPATA6L):c.1084A>G (p.Asn362Asp)	SPATA6L (N253D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168640	NM_001353486.2(SPATA6L):c.1052T>C (p.Leu351Pro)	SPATA6L (L228P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168639	NM_001353486.2(SPATA6L):c.1043T>C (p.Val348Ala)	SPATA6L (V257A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168638	NM_001353486.2(SPATA6L):c.998T>C (p.Phe333Ser)	SPATA6L (F275S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474996	NM_001353486.2(SPATA6L):c.972G>C (p.Leu324Phe)	SPATA6L (L266F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552242	NM_001353486.2(SPATA6L):c.955A>G (p.Thr319Ala)	SPATA6L (T228A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344825	NM_001353486.2(SPATA6L):c.872G>A (p.Ser291Asn)	SPATA6L (S200N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220444	NM_001353486.2(SPATA6L):c.832A>G (p.Ile278Val)	SPATA6L (I155V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459579	NM_001353486.2(SPATA6L):c.829C>T (p.Arg277Trp)	SPATA6L (R277W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600552	NM_001353486.2(SPATA6L):c.811A>G (p.Ile271Val)	SPATA6L (I162V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489926	NM_001353486.2(SPATA6L):c.797C>T (p.Ala266Val)	SPATA6L (A266V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245882	NM_001353486.2(SPATA6L):c.764C>T (p.Thr255Met)	SPATA6L (T269M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168637	NM_001353486.2(SPATA6L):c.692G>A (p.Gly231Asp)	SPATA6L (G140D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168636	NM_001353486.2(SPATA6L):c.685C>A (p.Pro229Thr)	SPATA6L (P138T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326349	NM_001353486.2(SPATA6L):c.652C>G (p.Pro218Ala)	SPATA6L (P109A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322004	NM_001353486.2(SPATA6L):c.637G>A (p.Gly213Arg)	SPATA6L (G122R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168635	NM_001353486.2(SPATA6L):c.606G>C (p.Gln202His)	SPATA6L (Q144H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462084	NM_001353486.2(SPATA6L):c.553C>G (p.Arg185Gly)	SPATA6L (R152G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369429	NM_001353486.2(SPATA6L):c.516G>T (p.Glu172Asp)	SPATA6L (E49D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168633	NM_001353486.2(SPATA6L):c.496A>G (p.Ile166Val)	SPATA6L (I57V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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