Related gene-specific medical variations for Gene (Select 11198) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360187	NM_007192.4(SUPT16H):c.3141G>T (p.Lys1047Asn)	SUPT16H (K1047N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359561	NM_007192.4(SUPT16H):c.1924_1928delinsGAGGT (p.Lys642_Glu643delinsGluVal)	SUPT16H	Indel (missense variant)	not provided	GUncertain significance
Select item 3359061	NM_007192.4(SUPT16H):c.1314del (p.Glu439fs)	SUPT16H (E439fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3343626	NM_007192.4(SUPT16H):c.3019G>A (p.Glu1007Lys)	LOC126861887, SUPT16H (E1007K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238797	NM_007192.4(SUPT16H):c.488A>G (p.Asp163Gly)	SUPT16H (D163G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3234894	NM_007192.4(SUPT16H):c.3085C>T (p.Arg1029Cys)	LOC126861887, SUPT16H (R1029C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3172136	NM_007192.4(SUPT16H):c.3134A>G (p.Lys1045Arg)	LOC126861887, SUPT16H (K1045R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039102	NM_007192.4(SUPT16H):c.3098G>A (p.Arg1033His)	LOC126861887, SUPT16H (R1033H)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GLikely benign
Select item 3030422	NM_007192.4(SUPT16H):c.3022GAA[3] (p.Glu1011del)	LOC126861887, SUPT16H (E1011del)	Microsatellite	SUPT16H-related disorder	GLikely benign
Select item 2690172	NM_007192.4(SUPT16H):c.132T>G (p.Ile44Met)	SUPT16H (I44M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2672185	NM_007192.4(SUPT16H):c.3092C>T (p.Ser1031Phe)	LOC126861887, SUPT16H (S1031F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2541925	NM_007192.4(SUPT16H):c.3014G>A (p.Arg1005His)	LOC126861887, SUPT16H (R1005H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436523	NM_007192.4(SUPT16H):c.973G>A (p.Val325Met)	SUPT16H (V325M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2404303	NM_007192.4(SUPT16H):c.3086G>A (p.Arg1029His)	LOC126861887, SUPT16H (R1029H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236839	NM_007192.4(SUPT16H):c.3125C>T (p.Pro1042Leu)	LOC126861887, SUPT16H (P1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679768	NM_007192.4(SUPT16H):c.548T>C (p.Met183Thr)	SUPT16H (M183T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 996977	NM_007192.4(SUPT16H):c.832C>T (p.Arg278Cys)	SUPT16H (R278C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance