CHAD[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 779024	NM_001267.3(CHAD):c.1049C>T (p.Thr350Ile)	ACSF2, CHAD (T350I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786655	NM_001267.3(CHAD):c.1047C>T (p.Pro349=)	ACSF2, CHAD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2463519	NM_001267.3(CHAD):c.1030C>T (p.Arg344Cys)	ACSF2, CHAD (R344C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535215	NM_001267.3(CHAD):c.937C>T (p.Arg313Trp)	ACSF2, CHAD (R313W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378108	NM_001267.3(CHAD):c.796G>A (p.Gly266Ser)	ACSF2, CHAD (G266S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778715	NM_001267.3(CHAD):c.676C>T (p.Leu226=)	ACSF2, CHAD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2525076	NM_001267.3(CHAD):c.623C>T (p.Ser208Phe)	ACSF2, CHAD (S208F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462344	NM_001267.3(CHAD):c.592G>A (p.Ala198Thr)	ACSF2, CHAD (A198T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727559	NM_001267.3(CHAD):c.571C>G (p.Leu191Val)	ACSF2, CHAD (L191V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2509568	NM_001267.3(CHAD):c.488G>A (p.Arg163His)	ACSF2, CHAD (R163H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527129	NM_001267.3(CHAD):c.472A>G (p.Lys158Glu)	ACSF2, CHAD (K158E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2509587	NM_001267.3(CHAD):c.360C>A (p.Asp120Glu)	ACSF2, CHAD (D120E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533199	NM_001267.3(CHAD):c.218C>A (p.Ala73Asp)	ACSF2, CHAD (A73D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319200	NM_001267.3(CHAD):c.115G>A (p.Asp39Asn)	CHAD, ACSF2 (D39N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559427	NM_001267.3(CHAD):c.75G>T (p.Gln25His)	ACSF2, CHAD (Q25H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778716	NM_001267.3(CHAD):c.73C>A (p.Gln25Lys)	ACSF2, CHAD (Q25K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 25