t horn - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284	NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	PIGV (A341E +2 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 619225	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1 (R428*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 2635630	NM_001349338.3(FOXP1):c.1168A>T (p.Thr390Ser)	FOXP1 (T289S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 97000	NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)	SNCA (G51D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GPathogenic
Select item 242210	NM_198253.3(TERT):c.-57A>C	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 1027370	NM_017411.4(SMN2):c.835-1897C>T	SMN2	Single nucleotide variant (intron variant)	Werdnig-Hoffmann disease	GUncertain significance
Select item 7962	NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	SMN2 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	Kugelberg-Welander disease +2 more	GConflicting classifications of pathogenicity
Select item 9168	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	SMN1 (A2G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9172	NM_000344.4(SMN1):c.131A>T (p.Asp44Val)	SMN1 (D44V)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 2664372	NM_000344.4(SMN1):c.268C>T (p.Gln90Ter)	SMN1 (Q90*)	Single nucleotide variant (nonsense)	Werdnig-Hoffmann disease	GLikely pathogenic
Select item 929467	NM_000344.4(SMN1):c.280G>T (p.Val94Phe)	SMN1 (V94F)	Single nucleotide variant (missense variant)	Werdnig-Hoffmann disease	GLikely pathogenic
Select item 9179	NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)	SMN1 (I116F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3239631	NM_000344.4(SMN1):c.347T>C (p.Ile116Thr)	SMN1 (I116T)	Single nucleotide variant (missense variant)	Werdnig-Hoffmann disease +1 more	GLikely pathogenic
Select item 870142	NM_000344.4(SMN1):c.379T>C (p.Tyr127His)	SMN1 (Y127H)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GLikely pathogenic
Select item 39513	NM_000344.4(SMN1):c.388T>C (p.Tyr130His)	SMN1 (Y130H)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 448428	NM_000344.4(SMN1):c.419A>T (p.Asp140Val)	SMN1 (D140V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 805485	NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)	SMN1 (Q157*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3239713	NM_000344.4(SMN1):c.490C>T (p.Gln164Ter)	SMN1 (Q164*)	Single nucleotide variant (nonsense)	Spinal muscular atrophy, type II	GPathogenic
Select item 634932	NM_000344.4(SMN1):c.662C>T (p.Pro221Leu)	SMN1 (P221L)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy, type II	GUncertain significance
Select item 3239632	NM_000344.4(SMN1):c.766G>T (p.Asp256Tyr)	SMN1 (D224Y +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GLikely pathogenic
Select item 9165	NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	SMN1 (S262I +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease +1 more	GPathogenic/Likely pathogenic
Select item 448431	NM_000344.4(SMN1):c.818A>T (p.His273Leu)	SMN1 (H273L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 9164	NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	SMN1 (T274I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9170	NM_000344.4(SMN1):c.834+6T>G	SMN1	Single nucleotide variant (intron variant)	Kugelberg-Welander disease	GPathogenic
Select item 2203655	NM_000344.4(SMN1):c.835-18_835-12del	SMN1	Deletion (intron variant)	Spinal muscular atrophy	GLikely pathogenic
Select item 495829	NM_000344.4(SMN1):c.835-3C>T	SMN1	Single nucleotide variant (intron variant)	Spinal muscular atrophy +3 more	GConflicting classifications of pathogenicity
Select item 632984	NM_000344.4(SMN1):c.835-2A>T	SMN1	Single nucleotide variant (intron variant +1 more)	Spinal muscular atrophy	GLikely pathogenic
Select item 9167	NM_000344.4(SMN1):c.836G>T (p.Gly279Val)	SMN1 (G279V +1 more)	Single nucleotide variant (missense variant +1 more)	Werdnig-Hoffmann disease	GPathogenic
Select item 586628	NM_000344.4(SMN1):c.840C>T (p.Phe280=)	SMN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3239714	NM_000344.4(SMN1):c.850C>T (p.Gln284Ter)	SMN1 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy, type II	GPathogenic
Select item 2988035	NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)	SMN1 (R256W +1 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy	GUncertain significance
Select item 928625	NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)	SMN1 (R256S +1 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy +1 more	GUncertain significance
Select item 495833	NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)	SMN1 (C289S +1 more)	Single nucleotide variant (missense variant +1 more)	Kugelberg-Welander disease +4 more	GUncertain significance
Select item 929483	NM_000344.4(SMN1):c.*3+3A>T	SMN1	Single nucleotide variant (intron variant)	Werdnig-Hoffmann disease	GLikely pathogenic
Select item 523093	NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)	ERGIC1 (V98E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 2, neurogenic type	GPathogenic
Select item 7786	NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	PEX7 (Y115*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GPathogenic/Likely pathogenic
Select item 800357	NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter)	ARHGEF10 (R323* +2 more)	Single nucleotide variant (nonsense)	Myopathy +1 more	GUncertain significance
Select item 1163018	NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	ASAH1, LOC129999940 (M1I)	Single nucleotide variant (missense variant +2 more)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127523	NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	CDKN2A (I49T)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +8 more	GConflicting classifications of pathogenicity
Select item 219815	NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)	CDKN2A (L16R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GPathogenic
Select item 14226	NR_003051.4(RMRP):n.16G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GPathogenic
Select item 366867	NM_016042.4(EXOSC3):c.*954G>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366868	NM_016042.4(EXOSC3):c.*881A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 366869	NM_016042.4(EXOSC3):c.*847T>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366871	NM_016042.4(EXOSC3):c.*795A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 912609	NM_016042.4(EXOSC3):c.*611A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366872	NM_016042.4(EXOSC3):c.*582A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 912610	NM_016042.4(EXOSC3):c.*555A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 912611	NM_016042.4(EXOSC3):c.*419A>G	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 366874	NM_016042.4(EXOSC3):c.*402C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913704	NM_016042.4(EXOSC3):c.*354C>A	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913707	NM_016042.4(EXOSC3):c.*242A>C	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 913708	NM_016042.4(EXOSC3):c.*197C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 366877	NM_016042.4(EXOSC3):c.*118G>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913709	NM_016042.4(EXOSC3):c.*64C>T	EXOSC3	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2757470	NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2195110	NM_016042.4(EXOSC3):c.813del (p.Arg271fs)	EXOSC3 (R271fs)	Deletion (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 758579	NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2910696	NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GBenign
Select item 2788412	NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2840066	NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)	EXOSC3 (K266R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 661315	NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)	EXOSC3 (S262L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 772755	NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 571172	NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)	EXOSC3 (T261M)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 384313	NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)	EXOSC3 (I253V)	Single nucleotide variant (3 prime UTR variant +1 more)	EXOSC3-related disorder +2 more	GLikely benign
Select item 2900103	NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2767586	NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)	EXOSC3 (W238*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 1407039	NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)	EXOSC3 (I237V)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 914102	NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)	EXOSC3 (I237L)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2500779	NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)	EXOSC3 (G235R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 2694561	NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2082361	NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)	EXOSC3 (Y225C)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GUncertain significance
Select item 2154660	NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)	EXOSC3 (L224H)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 2883557	NM_016042.4(EXOSC3):c.663G>A (p.Val221=)	EXOSC3	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2908394	NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)	EXOSC3 (I160V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2959174	NM_016042.4(EXOSC3):c.627-18C>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2793975	NM_016042.4(EXOSC3):c.626+11A>G	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2784114	NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)	EXOSC3	Single nucleotide variant (intron variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2723993	NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 210965	NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)	EXOSC3 (G191D)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B +1 more	GLikely pathogenic
Select item 1405008	NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)	EXOSC3 (R186Q)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 3017596	NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2915019	NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 129025	NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	EXOSC3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2089777	NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)	EXOSC3 (Y164C)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1675306	NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)	EXOSC3 (D161G)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
Select item 488793	NM_016042.4(EXOSC3):c.475-12A>G	EXOSC3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060002	NM_016042.4(EXOSC3):c.475-15T>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2708138	NM_016042.4(EXOSC3):c.474+13G>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2776453	NM_016042.4(EXOSC3):c.474+9G>A	EXOSC3	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 1002526	NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)	EXOSC3 (T150A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B +1 more	GUncertain significance
Select item 2720912	NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 2820664	NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 3021518	NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign
Select item 858223	NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)	EXOSC3 (G135R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 31688	NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	EXOSC3 (D132A)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 1409934	NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)	EXOSC3 (K130Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1B	GUncertain significance
Select item 1322842	NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)	EXOSC3 (I128fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 1B	GPathogenic
Select item 2855556	NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)	EXOSC3	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1B	GLikely benign

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