TAC4[gene] - ClinVar - NCBI

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Items: 16

	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 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 788606	NM_001077506.2(TAC4):c.322T>G (p.Ter108Glu)	TAC4	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 781306	NM_001077506.2(TAC4):c.200-11_200-9del	TAC4	Deletion (intron variant)	not provided	GBenign
Select item 2249303	NM_001077506.2(TAC4):c.191G>A (p.Arg64Gln)	TAC4 (R64Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223930	NM_001077506.2(TAC4):c.160G>A (p.Ala54Thr)	TAC4 (A54T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549681	NM_001077506.2(TAC4):c.113C>A (p.Ala38Asp)	TAC4 (A44D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358534	NM_001077506.2(TAC4):c.105+834C>T	FLJ45513, TAC4 (R62H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255281	NM_001077506.2(TAC4):c.105+634A>C	FLJ45513, TAC4 (S129A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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