Related gene-specific medical variations for Gene (Select 6476) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361535	NM_001041.4(SI):c.4163T>C (p.Phe1388Ser)	SI (F1388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246962	NC_000003.11:g.(?_164764609)_(164777835_?)del	SI	Deletion	not provided	GPathogenic
Select item 2628041	NM_001041.4(SI):c.570T>A (p.Tyr190Ter)	SI (Y190*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency	GLikely pathogenic
Select item 1323594	NM_001041.4(SI):c.2242C>T (p.Gln748Ter)	SI (Q748*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency	GPathogenic
Select item 1098645	NM_001041.4(SI):c.1399-402_1513-1189dup	SI	Duplication (splice acceptor variant +1 more)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 688589	GRCh37/hg19 3q26.1(chr3:164460778-164783346)x3	SI	Copy number gain	not provided	GUncertain significance
Select item 591977	NM_001041.4(SI):c.2764_2767del (p.Asn922fs)	SI (N922fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591972	NM_001041.4(SI):c.2353G>C (p.Asp785His)	SI (D785H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591797	NM_001041.4(SI):c.3482dup (p.Asn1161fs)	SI (N1161fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591633	NM_001041.4(SI):c.2273C>A (p.Pro758His)	SI (P758H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591369	NM_001041.4(SI):c.528T>A (p.Tyr176Ter)	SI (Y176*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591340	NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)	SI (Q450del)	Microsatellite (inframe_deletion)	Sucrase-isomaltase deficiency	GUncertain significance
Select item 591155	NM_001041.4(SI):c.1271T>A (p.Ile424Asn)	SI (I424N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591148	NM_001041.4(SI):c.3505A>G (p.Asn1169Asp)	SI (N1169D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591112	NM_001041.4(SI):c.1849dup (p.Thr617fs)	SI (T617fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 161506	NM_001041.4(SI):c.2094C>A (p.Phe698Leu)	SI (F698L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance