Related gene-specific medical variations for Gene (Select 10907) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630212	NM_006701.5(TXNL4A):c.1A>C (p.Met1Leu)	LOC130062794, TXNL4A (M1L)	Single nucleotide variant (5 prime UTR variant +4 more)	TXNL4A-related disorder	GUncertain significance
Select item 2269978	NM_006701.5(TXNL4A):c.5C>T (p.Ser2Leu)	LOC130062794, TXNL4A (S2L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1298010	NM_001305563.2(TXNL4A):c.-60-11000C>G	LOC130062795, TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270135	NM_006701.5(TXNL4A):c.-133T>G	LOC130062794, TXNL4A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1244544	NM_001305563.2(TXNL4A):c.-60-10958C>T	LOC130062795, TXNL4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 592068	NM_006701.5(TXNL4A):c.23T>G (p.Leu8Arg)	TXNL4A (L8R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 424721	Multiple alleles			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424720	Multiple alleles			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424719	Multiple alleles			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424718	Multiple alleles			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424717	NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424716	Multiple alleles			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424715	NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 424714	NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]			Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 253189	NM_006701.2:c.Exon 3 deletion	TXNL4A	Deletion	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	GPathogenic
Select item 242604	NC_000018.9:g.(?_77733783)_(77733853_77737598)del	TXNL4A	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 162203	NC_000018.9:g.77748581_77748614del34	LOC130062794, TXNL4A	Deletion (intron variant +1 more)	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity