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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12875	NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)	SCN2A (R188W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +3 more	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 222814	NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del)	SCN5A (K1492del +4 more)	Microsatellite (inframe_deletion)	Brugada syndrome +2 more	GPathogenic/Likely pathogenic
Select item 67626	NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)	SCN5A (R340Q)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 978356	NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)	KCNH2 (L192P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 883916	NM_000217.3(KCNA1):c.-1043C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 309123	NM_000217.3(KCNA1):c.-1040G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Myokymia +1 more	GUncertain significance
Select item 309124	NM_000217.3(KCNA1):c.-1034C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309125	NM_000217.3(KCNA1):c.-968C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309126	NM_000217.3(KCNA1):c.-959C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign
Select item 883917	NM_000217.3(KCNA1):c.-909A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 880635	NM_000217.3(KCNA1):c.-849T>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309128	NM_000217.3(KCNA1):c.-839C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign
Select item 309129	NM_000217.3(KCNA1):c.-731C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 309130	NM_000217.3(KCNA1):c.-684G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 880636	NM_000217.3(KCNA1):c.-638C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 309131	NM_000217.3(KCNA1):c.-636G>C	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 880637	NM_000217.3(KCNA1):c.-628C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 880638	NM_000217.3(KCNA1):c.-530A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309132	NM_000217.3(KCNA1):c.-487A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309134	NM_000217.3(KCNA1):c.-482G>C	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 882049	NM_000217.3(KCNA1):c.-433C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309135	NM_000217.3(KCNA1):c.-428C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign/Likely benign
Select item 882050	NM_000217.3(KCNA1):c.-420C>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309137	NM_000217.3(KCNA1):c.-235C>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Myokymia +2 more	GBenign/Likely benign
Select item 309138	NM_000217.3(KCNA1):c.-230C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 882051	NM_000217.3(KCNA1):c.-196C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309139	NM_000217.3(KCNA1):c.-157T>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 883199	NM_000217.3(KCNA1):c.-143C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309140	NM_000217.3(KCNA1):c.-134G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309141	NM_000217.3(KCNA1):c.-110G>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign
Select item 883200	NM_000217.3(KCNA1):c.-99C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309142	NM_000217.3(KCNA1):c.-27C>T	KCNA1, LOC130007218	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 946822	NM_000217.3(KCNA1):c.1A>T (p.Met1Leu)	KCNA1, LOC130007218 (M1L)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 883201	NM_000217.3(KCNA1):c.1A>G (p.Met1Val)	KCNA1, LOC130007218 (M1V)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GBenign
Select item 1482834	NM_000217.3(KCNA1):c.2T>C (p.Met1Thr)	KCNA1, LOC130007218 (M1T)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 967035	NM_000217.3(KCNA1):c.2T>G (p.Met1Arg)	KCNA1, LOC130007218 (M1R)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 2783112	NM_000217.3(KCNA1):c.5C>A (p.Thr2Lys)	KCNA1, LOC130007218 (T2K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1434900	NM_000217.3(KCNA1):c.6G>A (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 706304	NM_000217.3(KCNA1):c.6G>T (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1474077	NM_000217.3(KCNA1):c.14C>T (p.Ser5Phe)	KCNA1, LOC130007218 (S5F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1474794	NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)	KCNA1, LOC130007218 (G6R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2895659	NM_000217.3(KCNA1):c.17G>C (p.Gly6Ala)	KCNA1, LOC130007218 (G6A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1159155	NM_000217.3(KCNA1):c.18G>C (p.Gly6=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 883202	NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys)	KCNA1, LOC130007218 (E7K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1360899	NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys)	LOC130007218, KCNA1 (N8K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1116884	NM_000217.3(KCNA1):c.24C>T (p.Asn8=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 642028	NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2131800	NM_000217.3(KCNA1):c.31G>T (p.Glu11Ter)	KCNA1, LOC130007218 (E11*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 3020459	NM_000217.3(KCNA1):c.34G>C (p.Ala12Pro)	KCNA1, LOC130007218 (A12P)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1404392	NM_000217.3(KCNA1):c.35C>T (p.Ala12Val)	KCNA1, LOC130007218 (A12V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1348561	NM_000217.3(KCNA1):c.38C>A (p.Ser13Ter)	KCNA1, LOC130007218 (S13*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 2854855	NM_000217.3(KCNA1):c.40G>T (p.Ala14Ser)	KCNA1, LOC130007218 (A14S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 702194	NM_000217.3(KCNA1):c.42C>T (p.Ala14=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1721131	NM_000217.3(KCNA1):c.43G>A (p.Ala15Thr)	KCNA1, LOC130007218 (A15T)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 961458	NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser)	KCNA1, LOC130007218 (A15S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 1990086	NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)	KCNA1, LOC130007218 (A15V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1969965	NM_000217.3(KCNA1):c.48G>A (p.Pro16=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 955397	NM_000217.3(KCNA1):c.49G>C (p.Gly17Arg)	KCNA1 (G17R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 374425	NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	KCNA1 (H18P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2982893	NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys)	KCNA1 (Q20K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2138871	NM_000217.3(KCNA1):c.59A>G (p.Gln20Arg)	KCNA1 (Q20R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2160846	NM_000217.3(KCNA1):c.60G>A (p.Gln20=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 447612	NM_000217.3(KCNA1):c.60G>C (p.Gln20His)	KCNA1 (Q20H)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2769272	NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr)	KCNA1 (D21Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 804963	NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)	KCNA1 (D21N)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 950047	NM_000217.3(KCNA1):c.70T>C (p.Tyr24His)	KCNA1 (Y24H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171522	NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)	KCNA1 (P25L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 435546	NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp)	KCNA1 (R26W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2919952	NM_000217.3(KCNA1):c.84C>G (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1916131	NM_000217.3(KCNA1):c.84C>T (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign

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