HYI[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 1235831	NM_001365999.1(SZT2):c.*242G>A	HYI, SZT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 721603	NM_001190880.3(HYI):c.822G>A (p.Glu274=)	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2379886	NM_001190880.3(HYI):c.811G>A (p.Gly271Ser)	HYI, SZT2 (G271S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 445494	NM_001190880.3(HYI):c.804T>G (p.Asp268Glu)	HYI, SZT2 (D268E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2523980	NM_001190880.3(HYI):c.791G>A (p.Arg264His)	HYI, SZT2 (R289H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 783286	NM_001190880.3(HYI):c.743G>C (p.Cys248Ser)	HYI, SZT2 (C273S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2400871	NM_001190880.3(HYI):c.631G>A (p.Val211Met)	HYI, SZT2 (V236M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3107742	NM_001190880.3(HYI):c.601A>G (p.Ile201Val)	HYI, SZT2 (I201V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3026074	NM_001190880.3(HYI):c.540C>T (p.Asn180=)	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 445670	NM_001190880.3(HYI):c.505+5G>A	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1696576	NM_001365999.1(SZT2):c.*1719del	HYI, SZT2	Deletion (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 3285129	NM_001190880.3(HYI):c.409G>C (p.Ala137Pro)	HYI, SZT2 (A137P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3107740	NM_001190880.3(HYI):c.407C>G (p.Ala136Gly)	HYI, SZT2 (A161G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2389986	NM_001190880.3(HYI):c.374T>C (p.Met125Thr)	HYI, SZT2 (M150T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540782	NM_001190880.3(HYI):c.353G>A (p.Arg118Gln)	HYI, SZT2 (R118Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2637467	NM_001365999.1(SZT2):c.*1858G>C	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2436917	NM_001365999.1(SZT2):c.*2622C>T	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 445750	NM_001190880.3(HYI):c.302G>A (p.Gly101Asp)	HYI, SZT2 (G101D)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2410944	NM_001190880.3(HYI):c.263A>G (p.Glu88Gly)	HYI, SZT2 (E88G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253305	NM_001190880.3(HYI):c.259C>G (p.Arg87Gly)	HYI, SZT2 (R87G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374162	NM_001190880.3(HYI):c.250G>A (p.Ala84Thr)	HYI, SZT2 (A84T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1686343	NM_001365999.1(SZT2):c.*3147C>T	HYI, SZT2 (G56E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2219658	NM_001190880.3(HYI):c.118C>G (p.Pro40Ala)	HYI, LOC129930381 +1 more (P40A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385749	NM_001190880.3(HYI):c.97G>C (p.Glu33Gln)	HYI, LOC129930381 +1 more (E33Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3341689	NM_001190880.3(HYI):c.93C>T (p.Gly31=)	HYI, LOC129930381 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2288738	NM_001190880.3(HYI):c.92G>A (p.Gly31Asp)	HYI, LOC129930381 +1 more (G31D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244321	NM_001190880.3(HYI):c.23C>T (p.Ala8Val)	HYI, LOC129930381 +1 more (A8V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 686767	GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3	CDC20, ELOVL1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 39