9568[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1679636	NM_005458.8(GABBR2):c.*1906T>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GUncertain significance
Select item 1272136	NM_005458.8(GABBR2):c.*310A>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1193790	NM_005458.8(GABBR2):c.308_309insG	GABBR2	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 1206699	NM_005458.8(GABBR2):c.*308A>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1182606	NM_005458.8(GABBR2):c.*307A>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178247	NM_005458.8(GABBR2):c.*305A>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1296636	NM_005458.8(GABBR2):c.303_304insC	GABBR2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1302046	NM_005458.8(GABBR2):c.302_303insC	GABBR2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1263758	NM_005458.8(GABBR2):c.299_300insC	GABBR2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1239107	NM_005458.8(GABBR2):c.*300A>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278627	NM_005458.8(GABBR2):c.*8A>G	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1257809	NM_005458.8(GABBR2):c.*7G>A	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1213599	NM_005458.8(GABBR2):c.*2G>A	GABBR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1097398	NM_005458.8(GABBR2):c.2823G>A (p.Leu941=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1133346	NM_005458.8(GABBR2):c.2817G>C (p.Ser939=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 840334	NM_005458.8(GABBR2):c.2817G>A (p.Ser939=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2431987	NM_005458.8(GABBR2):c.2804G>A (p.Arg935Gln)	GABBR2 (R935Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1481984	NM_005458.8(GABBR2):c.2803C>T (p.Arg935Ter)	GABBR2 (R935*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GUncertain significance
Select item 2015999	NM_005458.8(GABBR2):c.2800T>C (p.Phe934Leu)	GABBR2 (F934L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3357076	NM_005458.8(GABBR2):c.2788G>A (p.Val930Met)	GABBR2 (V930M)	Single nucleotide variant (missense variant)	GABBR2-related disorder	GUncertain significance
Select item 3340864	NM_005458.8(GABBR2):c.2787T>A (p.His929Gln)	GABBR2 (H929Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247195	NM_005458.8(GABBR2):c.2786A>G (p.His929Arg)	GABBR2 (H929R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 1427254	NM_005458.8(GABBR2):c.2755_2778dup (p.Val919_Arg926dup)	GABBR2	Duplication (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
Select item 2476373	NM_005458.8(GABBR2):c.2777G>A (p.Arg926His)	GABBR2 (R926H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GUncertain significance
Select item 1125841	NM_005458.8(GABBR2):c.2777G>C (p.Arg926Pro)	GABBR2 (R926P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 462136	NM_005458.8(GABBR2):c.2774_2776dup (p.Pro925dup)	GABBR2	Duplication (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
Select item 578900	NM_005458.8(GABBR2):c.2776C>T (p.Arg926Cys)	GABBR2 (R926C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1993130	NM_005458.8(GABBR2):c.2764_2775del (p.Thr922_Pro925del)	GABBR2	Deletion (inframe_deletion)	Epileptic encephalopathy	GUncertain significance
Select item 1053284	NM_005458.8(GABBR2):c.2772C>G (p.Ser924Arg)	GABBR2 (S924R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3340554	NM_005458.8(GABBR2):c.2767G>T (p.Ala923Ser)	GABBR2 (A923S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 531002	NM_005458.8(GABBR2):c.2767G>A (p.Ala923Thr)	GABBR2 (A923T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 1084134	NM_005458.8(GABBR2):c.2766C>T (p.Thr922=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1436057	NM_005458.8(GABBR2):c.2765C>T (p.Thr922Ile)	GABBR2 (T922I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 964550	NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1])	GABBR2	Deletion (inframe_deletion)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 2428910	NM_005458.8(GABBR2):c.2755G>C (p.Val919Leu)	GABBR2 (V919L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580429	NM_005458.8(GABBR2):c.2755G>A (p.Val919Ile)	GABBR2 (V919I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 1192125	NM_005458.8(GABBR2):c.2754C>T (p.Cys918=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 521596	NM_005458.8(GABBR2):c.2743G>T (p.Val915Phe)	GABBR2 (V915F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780787	NM_005458.8(GABBR2):c.2741G>A (p.Cys914Tyr)	GABBR2 (C914Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 833649	NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)	GABBR2 (S913G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59 +2 more	GConflicting classifications of pathogenicity
Select item 1959113	NM_005458.8(GABBR2):c.2734G>A (p.Ala912Thr)	GABBR2 (A912T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2962504	NM_005458.8(GABBR2):c.2733C>T (p.Asp911=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1191350	NM_005458.8(GABBR2):c.2728G>A (p.Val910Met)	GABBR2 (V910M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 850006	NM_005458.8(GABBR2):c.2727C>T (p.Gly909=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 1115254	NM_005458.8(GABBR2):c.2721C>T (p.Ile907=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2005822	NM_005458.8(GABBR2):c.2719A>G (p.Ile907Val)	GABBR2 (I907V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1651811	NM_005458.8(GABBR2):c.2706C>T (p.Ala902=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1585265	NM_005458.8(GABBR2):c.2703C>T (p.His901=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3377672	NM_005458.8(GABBR2):c.2683C>A (p.Gln895Lys)	GABBR2 (Q895K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills	GUncertain significance
Select item 2122763	NM_005458.8(GABBR2):c.2682C>G (p.Leu894=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1155106	NM_005458.8(GABBR2):c.2679C>T (p.Ser893=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1995623	NM_005458.8(GABBR2):c.2672G>A (p.Arg891Gln)	GABBR2 (R891Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1719817	NM_005458.8(GABBR2):c.2671C>T (p.Arg891Trp)	GABBR2 (R891W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1103977	NM_005458.8(GABBR2):c.2670T>C (p.Arg890=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1307557	NM_005458.8(GABBR2):c.2669G>A (p.Arg890His)	GABBR2 (R890H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1618006	NM_005458.8(GABBR2):c.2667G>A (p.Gln889=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1109208	NM_005458.8(GABBR2):c.2664C>T (p.Ile888=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2012572	NM_005458.8(GABBR2):c.2661-12C>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1262742	NM_005458.8(GABBR2):c.2661-13T>C	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1620290	NM_005458.8(GABBR2):c.2661-18C>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1182907	NM_005458.8(GABBR2):c.2661-20C>T	GABBR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1231132	NM_005458.8(GABBR2):c.2661-45G>C	GABBR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262542	NM_005458.8(GABBR2):c.2661-56T>C	GABBR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279517	NM_005458.8(GABBR2):c.2661-92C>T	GABBR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187277	NM_005458.8(GABBR2):c.2660+104C>T	GABBR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232368	NM_005458.8(GABBR2):c.2660+58A>C	GABBR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296604	NM_005458.8(GABBR2):c.2660+23T>C	GABBR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018628	NM_005458.8(GABBR2):c.2660+20G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 462135	NM_005458.8(GABBR2):c.2660+10T>G	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GBenign
Select item 1161499	NM_005458.8(GABBR2):c.2660+8C>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2429885	NM_005458.8(GABBR2):c.2660+2T>G	GABBR2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GUncertain significance
Select item 2736051	NM_005458.8(GABBR2):c.2646A>T (p.Ile882=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 743815	NM_005458.8(GABBR2):c.2643T>C (p.Asp881=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1018480	NM_005458.8(GABBR2):c.2636T>C (p.Ile879Thr)	GABBR2 (I879T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 567007	NM_005458.8(GABBR2):c.2635A>G (p.Ile879Val)	GABBR2 (I879V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 462134	NM_005458.8(GABBR2):c.2631T>C (p.Asp877=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 1002780	NM_005458.8(GABBR2):c.2626A>G (p.Lys876Glu)	GABBR2 (K876E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2626953	NM_005458.8(GABBR2):c.2623T>A (p.Cys875Ser)	GABBR2 (C875S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522062	NM_005458.8(GABBR2):c.2621C>A (p.Thr874Lys)	GABBR2 (T874K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 462133	NM_005458.8(GABBR2):c.2619A>G (p.Arg873=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 833536	NM_005458.8(GABBR2):c.2618G>A (p.Arg873Gln)	GABBR2 (R873Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2030310	NM_005458.8(GABBR2):c.2613C>T (p.Pro871=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1167954	NM_005458.8(GABBR2):c.2605A>G (p.Thr869Ala)	GABBR2 (T869A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2015476	NM_005458.8(GABBR2):c.2602A>G (p.Thr868Ala)	GABBR2 (T868A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531144	NM_005458.8(GABBR2):c.2595G>A (p.Gln865=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2844784	NM_005458.8(GABBR2):c.2586C>T (p.Pro862=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 462132	NM_005458.8(GABBR2):c.2584C>T (p.Pro862Ser)	GABBR2 (P862S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

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