6606[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 150774	GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1	GTF2H2C, LOC111089946 +9 more	Copy number loss	See cases	GBenign
Select item 549599	NC_000005.9:g.68818173_70657747del1839575	GTF2H2, GTF2H2C +12 more	Deletion	Primary amenorrhea	GBenign
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign
Select item 150655	GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1	GTF2H2, GTF2H2C +10 more	Copy number loss	See cases	GBenign
Select item 150172	GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1	GTF2H2, GTF2H2C +9 more	Copy number loss	See cases	GLikely benign
Select item 144560	GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154352	GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154341	GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144512	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 144511	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 144425	GRCh38/hg38 5q13.2(chr5:69942850-70951975)x1	LOC113002590, SERF1A +4 more	Copy number loss	See cases	GBenign
Select item 144424	GRCh38/hg38 5q13.2(chr5:69942850-70951975)x3	LOC113002590, SERF1A +4 more	Copy number gain	See cases	GBenign
Select item 144258	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144257	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 144186	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 57346	GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1	LOC113002590, NAIP +5 more	Copy number loss	See cases	GBenign
Select item 32259	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154418	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154407	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154370	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 145451	GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1	LOC113002590, SERF1A +4 more	Copy number loss	See cases	GBenign
Select item 145397	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 145327	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144696	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 150010	GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 146734	GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 145406	GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1	LOC111089946, LOC113002590 +5 more	Copy number loss	See cases	GBenign
Select item 154317	GRCh38/hg38 5q13.2(chr5:70076645-70951975)x1	LOC113002590, SERF1A +3 more	Copy number loss	See cases	GBenign
Select item 154316	GRCh38/hg38 5q13.2(chr5:70076645-70951975)x3	LOC113002590, SERF1A +3 more	Copy number gain	See cases	GBenign
Select item 153027	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 153007	GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 144507	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 147000	GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1	LOC113002590, NAIP +3 more	Copy number loss	See cases	GBenign
Select item 146957	GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 149822	GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 146873	GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 144148	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57319	GRCh38/hg38 5q13.2(chr5:70436365-71014028)x1	NAIP, SERF1A +2 more	Copy number loss	See cases	GBenign
Select item 57277	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 57276	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57058	GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1	GTF2H2, LINC02197 +6 more	Copy number loss	See cases	GBenign
Select item 32199	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 549601	NC_000005.9:g.69741318_70422356del681039	GTF2H2, LOC111089946 +5 more	Deletion	Primary amenorrhea	GBenign
Select item 549602	NC_000005.9:g.69767948_70345611del577664	GTF2H2, LOC111089946 +4 more	Deletion	Primary amenorrhea	GBenign
Select item 144467	GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 144400	GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 145341	GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 1282079	NC_000005.10:g.70924611AC[22]	SMN1	Microsatellite	not provided	GBenign
Select item 1267419	NC_000005.10:g.70924611AC[24]	SMN1	Microsatellite	not provided	GBenign
Select item 1263723	NC_000005.10:g.70924611AC[25]	SMN1	Microsatellite	not provided	GBenign
Select item 1228053	NC_000005.10:g.70924611AC[21]	SMN1	Microsatellite	not provided	GBenign
Select item 1221656	NC_000005.10:g.70924611AC[23]	SMN1	Microsatellite	not provided	GBenign
Select item 1240985	NC_000005.10:g.70924882dup	SMN1	Duplication	not provided	GBenign
Select item 39514	NC_000005.10:g.(?_70924941)_(70966375_?)del	SMN-AS1, SMN1	Deletion	Kugelberg-Welander disease	GPathogenic
Select item 1217482	NM_000344.3(SMN1):c.-23C>G	SMN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1236938	NM_000344.4(SMN1):c.-14C>T	SMN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 634935	NM_000344.4(SMN1):c.5C>T (p.Ala2Val)	SMN1 (A2V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3239630	NM_000344.4(SMN1):c.13del (p.Ser5fs)	SMN1 (S5fs)	Deletion (frameshift variant)	Kugelberg-Welander disease	GPathogenic
Select item 2690494	NM_000344.4(SMN1):c.22dup (p.Ser8fs)	SMN1 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2684388	NM_000344.4(SMN1):c.43C>T (p.Gln15Ter)	SMN1 (Q15*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 634931	NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	SMN1 (V19fs)	Duplication (frameshift variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 634933	NM_000344.4(SMN1):c.77G>A (p.Gly26Asp)	SMN1 (G26D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1279988	NM_000344.4(SMN1):c.81+45C>T	SMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338105	NM_000344.4(SMN1):c.82-2596_723+467del	SMN1	Deletion (splice acceptor variant +1 more)	Spinal muscular atrophy, type II	GPathogenic
Select item 692109	NM_000344.4(SMN1):c.82-2548_723+515del	SMN1	Deletion (splice acceptor variant +1 more)	Werdnig-Hoffmann disease	GPathogenic
Select item 448432	NM_000344.4(SMN1):c.84C>T (p.Ser28=)	SMN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 9175	NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)	SMN1 (D30N)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 448433	NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)	SMN1 (I33*)	Duplication (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 586624	NM_000344.4(SMN1):c.109dup (p.Thr37fs)	SMN1 (T37fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 448427	NM_000344.4(SMN1):c.135dup (p.Ala46fs)	SMN1 (A46fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1807337	NM_000344.4(SMN1):c.223G>A (p.Ala75Thr)	SMN1 (A75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805484	NM_000344.4(SMN1):c.242A>T (p.Gln81Leu)	SMN1 (Q81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239629	NM_000344.4(SMN1):c.245_267del (p.Lys82fs)	SMN1 (K82fs)	Deletion (frameshift variant)	Werdnig-Hoffmann 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 634945	NM_000344.3(SMN1):c.274_284del11	SMN1	Deletion	not provided	GPathogenic
Select item 638580	NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	SMN1 (K93T)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GUncertain significance
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 9176	NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	SMN1 (G95R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1699436	NM_000344.4(SMN1):c.291del (p.Lys97fs)	SMN1 (K97fs)	Deletion (frameshift variant)	Spinal muscular atrophy	GPathogenic
Select item 9173	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1 (W102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 634938	NM_000344.4(SMN1):c.316G>A (p.Gly106Ser)	SMN1 (G106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690051	NM_000344.4(SMN1):c.317G>T (p.Gly106Val)	SMN1 (G106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9177	NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	SMN1 (A111G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 39512	NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)	SMN1 (Y130C)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease	GPathogenic
Select item 634947	NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	SMN1 (E134fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 9180	NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)	SMN1 (Q136E)	Single nucleotide variant (missense variant)	Werdnig-Hoffmann disease	GPathogenic
Select item 448428	NM_000344.4(SMN1):c.419A>T (p.Asp140Val)	SMN1 (D140V)	Single nucleotide variant (missense variant)	Spinal muscular atrophy +2 more	GConflicting classifications of pathogenicity
Select item 9171	NM_000344.4(SMN1):c.439_443del (p.Glu147fs)	SMN1 (E147fs)	Deletion (frameshift variant)	Werdnig-Hoffmann disease	GPathogenic
Select item 586625	NM_000344.4(SMN1):c.460C>T (p.Gln154Ter)	SMN1 (Q154*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 586626	NM_000344.4(SMN1):c.462A>G (p.Gln154=)	SMN1	Single nucleotide variant (synonymous variant)	Spinal muscular atrophy +2 more	GBenign/Likely benign

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