ClinVar for Gene (Select 55064) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3307828	NM_203453.5(PLPP6):c.169C>T (p.Arg57Trp)	LOC130001484, PLPP6 +1 more (R57W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307825	NM_203453.5(PLPP6):c.857C>T (p.Pro286Leu)	PLPP6, SPATA6L (P286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307824	NM_203453.5(PLPP6):c.227C>T (p.Ala76Val)	LOC130001484, PLPP6 +1 more (A76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215402	NM_203453.5(PLPP6):c.856C>T (p.Pro286Ser)	PLPP6, SPATA6L (P286S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215401	NM_203453.5(PLPP6):c.830A>G (p.Tyr277Cys)	PLPP6, SPATA6L (Y277C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215400	NM_203453.5(PLPP6):c.530T>C (p.Leu177Pro)	PLPP6, SPATA6L (L177P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215399	NM_203453.5(PLPP6):c.373T>C (p.Ser125Pro)	PLPP6, SPATA6L (S125P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215398	NM_203453.5(PLPP6):c.272G>A (p.Arg91His)	LOC130001484, PLPP6 +1 more (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215397	NM_203453.5(PLPP6):c.189C>G (p.Ser63Arg)	LOC130001484, PLPP6 +1 more (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168642	NM_001353486.2(SPATA6L):c.97C>G (p.Leu33Val)	SPATA6L (L33V)	Single nucleotide variant (missense variant +2 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 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 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 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
Select item 3168632	NM_001353486.2(SPATA6L):c.352G>T (p.Gly118Cys)	SPATA6L (G85C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063109	GRCh37/hg19 9p24.2-24.1(chr9:4386287-4611862)x1	SLC1A1, SPATA6L	Copy number loss	not specified	GUncertain significance
Select item 3063096	GRCh37/hg19 9p24.1(chr9:4655346-4846717)x1	AK3, CDC37L1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3060163	NM_203453.5(PLPP6):c.-7A>C	PLPP6, SPATA6L	Single nucleotide variant (5 prime UTR variant +1 more)	PLPP6-related disorder	GBenign
Select item 3055713	NM_203453.5(PLPP6):c.19A>G (p.Ser7Gly)	PLPP6, SPATA6L (S7G)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GBenign
Select item 3053035	NM_203453.5(PLPP6):c.877A>C (p.Ser293Arg)	PLPP6, SPATA6L (S293R)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GLikely benign
Select item 3046287	NM_203453.5(PLPP6):c.762G>A (p.Gly254=)	PLPP6, SPATA6L	Single nucleotide variant (synonymous variant +1 more)	PLPP6-related disorder	GLikely benign
Select item 3044796	NM_203453.5(PLPP6):c.23T>C (p.Met8Thr)	PLPP6, SPATA6L (M8T)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GBenign
Select item 3044176	NM_203453.5(PLPP6):c.749G>C (p.Arg250Thr)	PLPP6, SPATA6L (R250T)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GLikely benign
Select item 3041728	NM_203453.5(PLPP6):c.554G>T (p.Gly185Val)	PLPP6, SPATA6L (G185V)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GLikely benign
Select item 3035711	NM_203453.5(PLPP6):c.205G>A (p.Gly69Ser)	LOC130001484, PLPP6 +1 more (G69S)	Single nucleotide variant (missense variant +1 more)	PLPP6-related disorder	GBenign
Select item 3031620	NM_203453.5(PLPP6):c.507G>A (p.Leu169=)	PLPP6, SPATA6L	Single nucleotide variant (synonymous variant +1 more)	PLPP6-related disorder	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659042	NM_001353486.2(SPATA6L):c.93C>G (p.Val31=)	SPATA6L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2607465	NM_203453.5(PLPP6):c.563G>T (p.Arg188Leu)	PLPP6, SPATA6L (R188L)	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 2590146	NM_001353486.2(SPATA6L):c.76G>T (p.Asp26Tyr)	SPATA6L (D26Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589720	NM_001353486.2(SPATA6L):c.106C>G (p.Gln36Glu)	SPATA6L (Q36E +1 more)	Single nucleotide variant (missense variant +2 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 2531134	NM_001353486.2(SPATA6L):c.77A>G (p.Asp26Gly)	SPATA6L (D26G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525211	NM_203453.5(PLPP6):c.143C>G (p.Ala48Gly)	LOC130001484, PLPP6 +1 more (A48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524373	NM_001353486.2(SPATA6L):c.416G>A (p.Arg139Lys)	SPATA6L (R106K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522348	NM_001353486.2(SPATA6L):c.37G>A (p.Ala13Thr)	SPATA6L (A13T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519743	NM_203453.5(PLPP6):c.682C>T (p.His228Tyr)	PLPP6, SPATA6L (H228Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510745	NM_203453.5(PLPP6):c.344A>G (p.Lys115Arg)	PLPP6, SPATA6L (K115R)	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 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 2473518	NM_001353486.2(SPATA6L):c.478A>G (p.Ile160Val)	SPATA6L (I102V +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 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 2427400	NC_000009.11:g.(?_3828272)_(5126791_?)del	AK3, CDC37L1 +7 more	Deletion	not provided	GPathogenic
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 2375160	NM_203453.5(PLPP6):c.369G>C (p.Glu123Asp)	PLPP6, SPATA6L (E123D)	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 2351899	NM_203453.5(PLPP6):c.659T>G (p.Leu220Arg)	PLPP6, SPATA6L (L220R)	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 2337171	NM_203453.5(PLPP6):c.790G>A (p.Gly264Ser)	PLPP6, SPATA6L (G264S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330168	NM_203453.5(PLPP6):c.286C>G (p.Pro96Ala)	LOC130001484, PLPP6 +1 more (P96A)	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 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 2318404	NM_203453.5(PLPP6):c.89G>A (p.Gly30Asp)	LOC130001484, PLPP6 +1 more (G30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287405	NM_203453.5(PLPP6):c.355G>T (p.Val119Leu)	PLPP6, SPATA6L (V119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286310	NM_001353486.2(SPATA6L):c.172G>A (p.Glu58Lys)	SPATA6L (E25K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284432	NM_001353486.2(SPATA6L):c.133T>C (p.Ser45Pro)	SPATA6L (S12P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2254451	NM_203453.5(PLPP6):c.663G>A (p.Met221Ile)	PLPP6, SPATA6L (M221I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250154	NM_203453.5(PLPP6):c.317T>G (p.Leu106Arg)	PLPP6, SPATA6L (L106R)	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 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 1809469	GRCh37/hg19 9p24.1(chr9:4604171-5491331)x3	AK3, CD274 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808278	GRCh37/hg19 9p24.2-24.1(chr9:4386288-5003101)x1	AK3, CDC37L1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807926	GRCh37/hg19 9p24.2-24.1(chr9:4064988-4668671)x3	GLIS3, PLPP6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	RIC1, RLN1 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	AK3, BRD10 +37 more	Copy number loss	See cases	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, BRD10 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	IL33, RCL1 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, BRD10 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1527500	GRCh37/hg19 9p24.2-24.1(chr9:4529859-4734644)	AK3, CDC37L1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, BRD10 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic

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