Related gene-specific medical variations for Gene (Select 7818) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333760	NM_139119.3(YY1AP1):c.-59C>T	DAP3, YY1AP1 (S119L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3191695	NM_139119.3(YY1AP1):c.-151-34A>G	DAP3, YY1AP1 (H77R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3191694	NM_139119.3(YY1AP1):c.-151-38C>T	DAP3, YY1AP1 (L76F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191687	NM_139119.3(YY1AP1):c.-151-89A>G	DAP3, YY1AP1 (I59V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191685	NM_139119.3(YY1AP1):c.-151-91C>A	DAP3, YY1AP1 (T58K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191681	NM_139119.3(YY1AP1):c.-151-161G>C	DAP3, YY1AP1 (E35Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075820	NM_139121.3(YY1AP1):c.-420T>A	DAP3, YY1AP1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 3065474	NM_139119.3(YY1AP1):c.-21+1G>T	DAP3, YY1AP1	Single nucleotide variant (splice donor variant +1 more)	Grange syndrome	GLikely pathogenic
Select item 3054730	NM_139119.3(YY1AP1):c.-151-186A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder	GLikely benign
Select item 3052471	NM_139119.3(YY1AP1):c.-145T>A	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	YY1AP1-related disorder	GLikely benign
Select item 2683853	NC_000001.11:g.(155747068_155747546)_(155611487_155611965)del	DAP3	Deletion	Perrault syndrome 1	GPathogenic
Select item 2557066	NM_139119.3(YY1AP1):c.-151-20C>T	DAP3, YY1AP1 (L82F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536393	NM_139119.3(YY1AP1):c.-151-61C>T	DAP3, YY1AP1 (S68F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480837	NM_139119.3(YY1AP1):c.-151-206G>A	DAP3, YY1AP1 (G20R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410878	NM_139119.3(YY1AP1):c.-152+213A>G	DAP3, YY1AP1 (S7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372280	NM_139119.3(YY1AP1):c.-90C>T	DAP3, YY1AP1 (R109W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362276	NM_139119.3(YY1AP1):c.-151-58C>T	DAP3, YY1AP1 (S69F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341000	NM_139119.3(YY1AP1):c.-141C>T	DAP3, YY1AP1 (R20C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305736	NM_139119.3(YY1AP1):c.-151-185G>A	DAP3, YY1AP1 (G27S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2218042	NM_139119.3(YY1AP1):c.-151-122C>T	DAP3, YY1AP1 (R48C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2066821	NM_139119.3(YY1AP1):c.-151-43T>A	DAP3, YY1AP1 (L74*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1723831	NM_139119.3(YY1AP1):c.-27C>T	DAP3, YY1AP1 (R130* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1076776	NM_139119.3(YY1AP1):c.-151-100dup	DAP3, YY1AP1 (G56fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1031923	NM_139119.3(YY1AP1):c.-151-20_-151-18del	DAP3, YY1AP1 (L82del)	Microsatellite (inframe_deletion +1 more)	Grange syndrome	GUncertain significance
Select item 791223	NM_139119.3(YY1AP1):c.-151-68T>C	DAP3, YY1AP1 (S66P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 783949	NM_139119.3(YY1AP1):c.-151-84A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782734	NM_139119.3(YY1AP1):c.-60T>C	DAP3, YY1AP1 (S119P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 775608	NM_139119.3(YY1AP1):c.-49T>C	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 773115	NM_139119.3(YY1AP1):c.-95G>A	DAP3, YY1AP1 (G107E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 740041	NM_139119.3(YY1AP1):c.-151-126C>T	YY1AP1, DAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736159	NM_139119.3(YY1AP1):c.-151-128_-151-120del	DAP3, YY1AP1	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 720659	NM_139119.3(YY1AP1):c.-30C>T	DAP3, YY1AP1 (L57F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 720286	NM_139119.3(YY1AP1):c.-151-23C>T	DAP3, YY1AP1 (L81F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 33