443[geneid] - 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	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 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	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +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 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 322631	NM_000049.4(ASPA):c.-152C>T	SPATA22, ASPA	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	SPATA22, ASPA	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)	SPATA22, ASPA (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)	Canavan Disease, Familial Form +1 more	GPathogenic/Likely pathogenic
Select item 1420788	NM_000049.4(ASPA):c.34C>T (p.Gln12Ter)	ASPA, SPATA22 (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)	SPATA22, ASPA (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=)	ASPA, SPATA22	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)	SPATA22, ASPA (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)	SPATA22, ASPA (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=)	ASPA, SPATA22	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)	SPATA22, ASPA (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)	SPATA22, ASPA (A39T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	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=)	ASPA, SPATA22	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
Select item 839442	NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	ASPA, SPATA22 (N54K)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 1130082	NM_000049.4(ASPA):c.166A>C (p.Arg56=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2819346	NM_000049.4(ASPA):c.168A>G (p.Arg56=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2736389	NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)	ASPA, SPATA22 (A57T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 1476842	NM_000049.4(ASPA):c.169G>T (p.Ala57Ser)	ASPA, SPATA22 (A57S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 556428	NM_000049.4(ASPA):c.170C>T (p.Ala57Val)	ASPA, SPATA22 (A57V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 2837676	NM_000049.4(ASPA):c.171A>T (p.Ala57=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1597583	NM_000049.4(ASPA):c.171A>G (p.Ala57=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 555993	NM_000049.4(ASPA):c.188G>C (p.Arg63Thr)	SPATA22, ASPA (R63T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 3240542	NM_000049.4(ASPA):c.192del (p.Arg63_Tyr64insTer)	ASPA, SPATA22	Deletion (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 3010758	NM_000049.4(ASPA):c.192T>C (p.Tyr64=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2755682	NM_000049.4(ASPA):c.198C>T (p.Asp66=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2736390	NM_000049.4(ASPA):c.209A>G (p.Asn70Ser)	ASPA, SPATA22 (N70S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1786218	NM_000049.4(ASPA):c.211C>A (p.Arg71Ser)	ASPA, SPATA22 (R71S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1503500	NM_000049.4(ASPA):c.211C>T (p.Arg71Cys)	ASPA, SPATA22 (R71C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2616	NM_000049.4(ASPA):c.212G>A (p.Arg71His)	ASPA, SPATA22 (R71H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1146210	NM_000049.4(ASPA):c.213C>G (p.Arg71=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 1377025	NM_000049.4(ASPA):c.224T>C (p.Leu75Pro)	ASPA, SPATA22 (L75P)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 1069303	NM_000049.4(ASPA):c.230dup (p.Asn77fs)	ASPA, SPATA22 (N77fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 1134355	NM_000049.4(ASPA):c.230A>G (p.Asn77Ser)	ASPA, SPATA22 (N77S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GConflicting classifications of pathogenicity
Select item 3240537	NM_000049.4(ASPA):c.236+1G>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 550670	NM_000049.4(ASPA):c.236+1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic

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