ClinVar for Gene (Select 6863) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3173228	NM_003182.3(TAC1):c.322G>A (p.Gly108Ser)	TAC1 (G93S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427215	NC_000007.13:g.(?_96318236)_(97493828_?)dup	ASNS, DLX5 +4 more	Duplication	not provided	GUncertain significance
Select item 2256471	NM_003182.3(TAC1):c.366G>A (p.Met122Ile)	TAC1 (M104I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206226	NM_003182.3(TAC1):c.193T>C (p.Phe65Leu)	TAC1 (F65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 741561	NM_003182.3(TAC1):c.294T>C (p.His98=)	TAC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731972	NM_003182.3(TAC1):c.12C>G (p.Leu4=)	TAC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442522	GRCh37/hg19 7q21.3(chr7:97003103-97868063)x3	ASNS, BHLHA15 +4 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395018	GRCh37/hg19 7q21.3(chr7:96066104-97428089)x3	C7orf76, DLX5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 152345	GRCh38/hg38 7q21.3(chr7:97403740-97858352)x1	ASNS, CZ1P-ASNS +3 more	Copy number loss	See cases	GUncertain significance
Select item 152082	GRCh38/hg38 7q21.3(chr7:97698133-97744122)x3	LOC126860118, TAC1	Copy number gain	See cases	GLikely benign
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24