SPATA22[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	ABR, ABR-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	ASPA, CCDC92B +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	OR1E2, OR1G1 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 144439	GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1	ASPA, LOC100288728 +12 more	Copy number loss	See cases	GBenign
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2543976	NM_001170698.2(SPATA22):c.1067A>G (p.Tyr356Cys)	SPATA22 (Y313C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168288	NM_001170698.2(SPATA22):c.998C>T (p.Pro333Leu)	SPATA22 (P290L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647233	NM_001170698.2(SPATA22):c.915G>A (p.Pro305=)	SPATA22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224142	NM_001170698.2(SPATA22):c.761G>A (p.Arg254His)	SPATA22 (R254H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287464	NM_001170698.2(SPATA22):c.748A>T (p.Met250Leu)	SPATA22 (M207L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168286	NM_001170698.2(SPATA22):c.739A>G (p.Ile247Val)	SPATA22 (I231V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168284	NM_001170698.2(SPATA22):c.587C>T (p.Ala196Val)	SPATA22 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392989	NM_001170698.2(SPATA22):c.574G>A (p.Asp192Asn)	SPATA22 (D176N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596343	NM_001170698.2(SPATA22):c.562A>G (p.Met188Val)	SPATA22 (M188V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168283	NM_001170698.2(SPATA22):c.352A>G (p.Thr118Ala)	SPATA22 (T75A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412031	NM_001170698.2(SPATA22):c.305C>G (p.Thr102Ser)	SPATA22 (T59S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168282	NM_001170698.2(SPATA22):c.290C>G (p.Ser97Cys)	SPATA22 (S54C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691735	NM_001170698.2(SPATA22):c.253del (p.Ser85fs)	SPATA22 (S42fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3024999	NM_001170698.2(SPATA22):c.233+8G>A	SPATA22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2260155	NM_001170698.2(SPATA22):c.223G>A (p.Val75Met)	SPATA22 (V32M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211292	NM_001170698.2(SPATA22):c.160C>T (p.Pro54Ser)	SPATA22 (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341388	NM_001170698.2(SPATA22):c.146A>G (p.Asn49Ser)	SPATA22 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168281	NM_001170698.2(SPATA22):c.134C>T (p.Thr45Ile)	SPATA22 (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168285	NM_001170698.2(SPATA22):c.59C>T (p.Pro20Leu)	SPATA22 (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345482	NM_001170698.2(SPATA22):c.58C>T (p.Pro20Ser)	SPATA22 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397160	NM_001170698.2(SPATA22):c.41C>A (p.Ala14Glu)	SPATA22 (A14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 322631	NM_000049.4(ASPA):c.-152C>T	ASPA, SPATA22	Single nucleotide variant (5 prime UTR variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 322632	NM_000049.4(ASPA):c.-105T>C	ASPA, SPATA22	Single nucleotide variant (5 prime UTR variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 1195919	NM_000049.4(ASPA):c.-6G>A	ASPA, SPATA22	Single nucleotide variant (5 prime UTR variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 370934	NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	ASPA, SPATA22 (M1T)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2826210	NM_000049.4(ASPA):c.3G>A (p.Met1Ile)	ASPA, SPATA22 (M1I)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 813437	NM_000049.4(ASPA):c.3G>T (p.Met1Ile)	ASPA, SPATA22 (M1I)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2854616	NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)	ASPA, SPATA22 (C4fs)	Indel (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1561274	NM_000049.4(ASPA):c.10T>C (p.Cys4Arg)	ASPA, SPATA22 (C4R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1635555	NM_000049.4(ASPA):c.15C>T (p.His5=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2418719	NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal)	ASPA, SPATA22	Deletion (inframe_indel +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2119193	NM_000049.4(ASPA):c.25G>T (p.Glu9Ter)	ASPA, SPATA22 (E9*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1454528	NM_000049.4(ASPA):c.27dup (p.His10fs)	ASPA, SPATA22 (H10fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1572259	NM_000049.4(ASPA):c.30T>C (p.His10=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +1 more	GLikely benign
Select item 2678898	NM_000049.4(ASPA):c.34_46del (p.Gln12fs)	ASPA, SPATA22 (Q12fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 189049	NM_000049.4(ASPA):c.32del (p.Ile11fs)	ASPA, SPATA22 (I11fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 1420788	NM_000049.4(ASPA):c.34C>T (p.Gln12Ter)	SPATA22, ASPA (Q12*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1148556	NM_000049.4(ASPA):c.36A>G (p.Gln12=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2067755	NM_000049.4(ASPA):c.38A>G (p.Lys13Arg)	ASPA, SPATA22 (K13R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 2678923	NM_000049.4(ASPA):c.40del (p.Val14fs)	ASPA, SPATA22 (V14fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 1951336	NM_000049.4(ASPA):c.40G>A (p.Val14Ile)	ASPA, SPATA22 (V14I)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 1155198	NM_000049.4(ASPA):c.45T>C (p.Ala15=)	SPATA22, ASPA	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 550560	NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	ASPA, SPATA22 (I16T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 1618207	NM_000049.4(ASPA):c.48C>A (p.Ile16=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 796050	NM_000049.4(ASPA):c.57A>C (p.Gly19=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2055351	NM_000049.4(ASPA):c.59C>T (p.Thr20Ile)	ASPA, SPATA22 (T20I)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 3007218	NM_000049.4(ASPA):c.63T>C (p.His21=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1500315	NM_000049.4(ASPA):c.65G>A (p.Gly22Glu)	ASPA, SPATA22 (G22E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2614	NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	ASPA, SPATA22 (E24G)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2851499	NM_000049.4(ASPA):c.75A>G (p.Leu25=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1342194	NM_000049.4(ASPA):c.77C>T (p.Thr26Ile)	ASPA, SPATA22 (T26I)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 696553	NM_000049.4(ASPA):c.78C>T (p.Thr26=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1998122	NM_000049.4(ASPA):c.80del (p.Gly27fs)	ASPA, SPATA22 (G27fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 188888	NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	ASPA, SPATA22 (G27R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1762000	NM_000049.4(ASPA):c.80G>T (p.Gly27Val)	ASPA, SPATA22 (G27V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1134642	NM_000049.4(ASPA):c.81A>G (p.Gly27=)	SPATA22, ASPA	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1114612	NM_000049.4(ASPA):c.84A>G (p.Val28=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2746533	NM_000049.4(ASPA):c.87T>C (p.Phe29=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2907504	NM_000049.4(ASPA):c.88C>G (p.Leu30Val)	ASPA, SPATA22 (L30V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1646507	NM_000049.4(ASPA):c.88C>T (p.Leu30=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 556181	NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	ASPA, SPATA22 (L30P)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GLikely pathogenic
Select item 700434	NM_000049.4(ASPA):c.99T>C (p.His33=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1402186	NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	ASPA, SPATA22 (W34*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2107207	NM_000049.4(ASPA):c.102G>A (p.Trp34Ter)	ASPA, SPATA22 (W34*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1630404	NM_000049.4(ASPA):c.111T>C (p.Asn37=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1510418	NM_000049.4(ASPA):c.113G>A (p.Gly38Asp)	ASPA, SPATA22 (G38D)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 762914	NM_000049.4(ASPA):c.114C>T (p.Gly38=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 700352	NM_000049.4(ASPA):c.115G>A (p.Ala39Thr)	ASPA, SPATA22 (A39T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1342193	NM_000049.4(ASPA):c.124C>T (p.Gln42Ter)	ASPA, SPATA22 (Q42*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2414242	NM_000049.4(ASPA):c.131C>G (p.Thr44Arg)	ASPA, SPATA22 (T44R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 3006156	NM_000049.4(ASPA):c.132A>G (p.Thr44=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1926807	NM_000049.4(ASPA):c.133G>C (p.Gly45Arg)	ASPA, SPATA22 (G45R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 2033312	NM_000049.4(ASPA):c.138G>A (p.Leu46=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1145816	NM_000049.4(ASPA):c.141G>A (p.Glu47=)	SPATA22, ASPA	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 661638	NM_000049.4(ASPA):c.147dup (p.Pro50fs)	ASPA, SPATA22 (P50fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 1134833	NM_000049.4(ASPA):c.150A>G (p.Pro50=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2715769	NM_000049.4(ASPA):c.158del (p.Thr53fs)	ASPA, SPATA22 (T53fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1521499	NM_000049.4(ASPA):c.160A>C (p.Asn54His)	ASPA, SPATA22 (N54H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic

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