YWHAG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 153077	GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1	DTX2, FPASL +8 more	Copy number loss	See cases	GBenign
Select item 2102591	NM_012479.4(YWHAG):c.741T>C (p.Asn247=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690825	NM_012479.4(YWHAG):c.736A>G (p.Asn246Asp)	YWHAG (N246D)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1585340	NM_012479.4(YWHAG):c.729C>T (p.Gly243=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707493	NM_012479.4(YWHAG):c.726C>T (p.Gly242=)	YWHAG	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 56 +1 more	GBenign/Likely benign
Select item 1676795	NM_012479.4(YWHAG):c.722A>G (p.Asp241Gly)	YWHAG (D241G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 56	GLikely benign
Select item 3191672	NM_012479.4(YWHAG):c.721G>A (p.Asp241Asn)	YWHAG (D241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719944	NM_012479.4(YWHAG):c.720C>T (p.Asp240=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976992	NM_012479.4(YWHAG):c.717C>T (p.Asp239=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181853	NM_012479.4(YWHAG):c.711G>A (p.Gln237=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560520	NM_012479.4(YWHAG):c.702G>A (p.Thr234=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599066	NM_012479.4(YWHAG):c.696C>T (p.Leu232=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600430	NM_012479.4(YWHAG):c.693G>A (p.Thr231=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2748386	NM_012479.4(YWHAG):c.687C>A (p.Asn229Lys)	YWHAG (N229K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097789	NM_012479.4(YWHAG):c.687C>T (p.Asn229=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569983	NM_012479.4(YWHAG):c.684C>T (p.Asp228=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027791	NM_012479.4(YWHAG):c.683A>T (p.Asp228Val)	YWHAG (D228V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 1312189	NM_012479.4(YWHAG):c.682G>A (p.Asp228Asn)	YWHAG (D228N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2149694	NM_012479.4(YWHAG):c.681C>T (p.Arg227=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713430	NM_012479.4(YWHAG):c.648_671del (p.Tyr216_Gln224delinsTer)	YWHAG	Deletion (nonsense)	not provided	GUncertain significance
Select item 1557712	NM_012479.4(YWHAG):c.663C>T (p.Leu221=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643872	NM_012479.4(YWHAG):c.660G>A (p.Thr220=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310610	NM_012479.4(YWHAG):c.648C>A (p.Tyr216Ter)	YWHAG (Y216*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2124192	NM_012479.4(YWHAG):c.634_645del (p.Asn212_Ser215del)	YWHAG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1537867	NM_012479.4(YWHAG):c.645C>T (p.Ser215=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2584359	NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)	YWHAG	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 2959810	NM_012479.4(YWHAG):c.636C>T (p.Asn212=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671946	NM_012479.4(YWHAG):c.633C>T (p.Leu211=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845799	NM_012479.4(YWHAG):c.631del (p.Leu211fs)	YWHAG (L211fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2818040	NM_012479.4(YWHAG):c.624T>G (p.Leu208=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747265	NM_012479.4(YWHAG):c.619G>A (p.Glu207Lys)	YWHAG (E207K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1554452	NM_012479.4(YWHAG):c.618C>T (p.Ala206=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972620	NM_012479.4(YWHAG):c.616G>A (p.Ala206Thr)	YWHAG (A206T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987637	NM_012479.4(YWHAG):c.612C>T (p.Ala204=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707381	NM_012479.4(YWHAG):c.609C>T (p.Asp203=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1594822	NM_012479.4(YWHAG):c.606C>T (p.Asp202=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535459	NM_012479.4(YWHAG):c.603C>T (p.Phe201=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592211	NM_012479.4(YWHAG):c.600G>A (p.Ala200=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702194	NM_012479.4(YWHAG):c.597C>A (p.Thr199=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417956	NM_012479.4(YWHAG):c.597C>T (p.Thr199=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616823	NM_012479.4(YWHAG):c.591C>G (p.Ala197=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621272	NM_012479.4(YWHAG):c.586T>C (p.Leu196=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059671	NM_012479.4(YWHAG):c.585C>T (p.His195=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2061321	NM_012479.4(YWHAG):c.583C>T (p.His195Tyr)	YWHAG (H195Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567309	NM_012479.4(YWHAG):c.579G>A (p.Ala193=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2418754	NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)	YWHAG (A193V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2034563	NM_012479.4(YWHAG):c.576dup (p.Ala193fs)	YWHAG (A193fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1649024	NM_012479.4(YWHAG):c.573G>A (p.Glu191=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939833	NM_012479.4(YWHAG):c.567C>A (p.Ala189=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444788	NM_012479.4(YWHAG):c.566C>A (p.Ala189Asp)	YWHAG (A189D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 766899	NM_012479.4(YWHAG):c.564C>T (p.Asn188=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2766210	NM_012479.4(YWHAG):c.560A>T (p.Gln187Leu)	YWHAG (Q187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719624	NM_012479.4(YWHAG):c.555G>A (p.Glu185=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985849	NM_012479.4(YWHAG):c.552T>A (p.Tyr184Ter)	YWHAG (Y184*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2877356	NM_012479.4(YWHAG):c.543C>T (p.Val181=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827317	NM_012479.4(YWHAG):c.542T>C (p.Val181Ala)	YWHAG (V181A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2727085	NM_012479.4(YWHAG):c.541G>A (p.Val181Ile)	YWHAG (V181I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111816	NM_012479.4(YWHAG):c.540C>T (p.Ser180=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816056	NM_012479.4(YWHAG):c.529C>T (p.Leu177Phe)	YWHAG (L177F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1700815	NM_012479.4(YWHAG):c.524T>C (p.Leu175Pro)	YWHAG (L175P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051862	NM_012479.4(YWHAG):c.522C>T (p.Gly174=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608356	NM_012479.4(YWHAG):c.519A>G (p.Leu173=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013349	NM_012479.4(YWHAG):c.518T>G (p.Leu173Ter)	YWHAG (L173*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1597074	NM_012479.4(YWHAG):c.510C>T (p.Pro170=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134616	NM_012479.4(YWHAG):c.507C>T (p.His169=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844428	NM_012479.4(YWHAG):c.491A>G (p.His164Arg)	YWHAG (H164R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656985	NM_012479.4(YWHAG):c.485A>G (p.Lys162Arg)	YWHAG (K162R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1464371	NM_012479.4(YWHAG):c.475G>A (p.Glu159Lys)	YWHAG (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590099	NM_012479.4(YWHAG):c.474C>T (p.His158=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657623	NM_012479.4(YWHAG):c.471C>T (p.Ala157=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608171	NM_012479.4(YWHAG):c.465C>T (p.Ser155=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2088488	NM_012479.4(YWHAG):c.462C>G (p.Tyr154Ter)	YWHAG (Y154*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1536619	NM_012479.4(YWHAG):c.455A>G (p.Lys152Arg)	YWHAG (K152R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802325	NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter)	YWHAG (E151*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 56	GPathogenic
Select item 1289737	NM_012479.4(YWHAG):c.450C>T (p.Ser150=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2053736	NM_012479.4(YWHAG):c.438G>T (p.Val146=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974207	NM_012479.4(YWHAG):c.435G>A (p.Thr145=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378466	NM_012479.4(YWHAG):c.434C>T (p.Thr145Met)	YWHAG (T145M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2065790	NM_012479.4(YWHAG):c.432G>A (p.Ala144=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472649	NM_012479.4(YWHAG):c.431C>T (p.Ala144Val)	YWHAG (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108569	NM_012479.4(YWHAG):c.425A>G (p.Lys142Arg)	YWHAG (K142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174712	NM_012479.4(YWHAG):c.418G>A (p.Gly140Arg)	YWHAG (G140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463037	NM_012479.4(YWHAG):c.417C>T (p.Thr139=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635437	NM_012479.4(YWHAG):c.397_406dup (p.Glu136delinsValProGlyTer)	YWHAG	Duplication (nonsense)	YWHAG-related disorder	GUncertain significance
Select item 2728068	NM_012479.4(YWHAG):c.399C>T (p.Tyr133=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335673	NM_012479.4(YWHAG):c.398A>G (p.Tyr133Cys)	YWHAG (Y133C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 549482	NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)	YWHAG (Y133S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 56	GConflicting classifications of pathogenicity

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