ClinVar for Gene (Select 126861887) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039102	NM_007192.4(SUPT16H):c.3098G>A (p.Arg1033His)	LOC126861887, SUPT16H (R1033H)	Single nucleotide variant (missense variant)	SUPT16H-related condition	GLikely benign
Select item 3030422	NM_007192.4(SUPT16H):c.3022GAA[3] (p.Glu1011del)	LOC126861887, SUPT16H (E1011del)	Microsatellite (inframe deletion)	SUPT16H-related condition	GLikely benign
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 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 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22