SMN-AS1[gene] - ClinVar

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Items: 52

	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 39514	NC_000005.10:g.(?_70924941)_(70966375_?)del	SMN-AS1, SMN1	Deletion	Kugelberg-Welander disease	GPathogenic

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Items: 52