ClinVar for Gene (Select 55744) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2620286	NM_018224.4(COA1):c.7T>C (p.Trp3Arg)	COA1 (W3R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2597515	NM_018224.4(COA1):c.82G>A (p.Gly28Arg)	COA1 (G16R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2549879	NM_004760.3(STK17A):c.955C>T (p.Pro319Ser)	COA1, STK17A (P319S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533739	NM_004760.3(STK17A):c.761A>G (p.Tyr254Cys)	COA1, STK17A (Y254C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493564	NM_018224.4(COA1):c.98T>A (p.Val33Glu)	COA1 (V21E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479885	NM_004760.3(STK17A):c.814T>C (p.Phe272Leu)	COA1, STK17A (F272L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458122	NM_004760.3(STK17A):c.611A>T (p.Lys204Met)	COA1, STK17A (K204M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400553	NM_018224.4(COA1):c.202C>T (p.Leu68Phe)	COA1 (L64F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368384	NM_018224.4(COA1):c.310G>A (p.Val104Ile)	COA1 (V100I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306714	NM_004760.3(STK17A):c.798T>A (p.Asn266Lys)	COA1, STK17A (N266K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244962	NM_018224.4(COA1):c.329G>A (p.Gly110Asp)	COA1 (G104D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240468	NM_004760.3(STK17A):c.1136G>C (p.Gly379Ala)	COA1, STK17A (G379A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218341	NM_018224.4(COA1):c.419G>A (p.Gly140Asp)	COA1 (G134D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 979755	GRCh37/hg19 7p13(chr7:43694838-43809081)x1	COA1, BLVRA	Copy number loss	not provided	GUncertain significance
Select item 814968	GRCh37/hg19 7p13(chr7:43534614-43819386)x3	BLVRA, STK17A +2 more	Copy number gain	not provided	GUncertain significance
Select item 769710	NM_004760.3(STK17A):c.705T>C (p.Leu235=)	COA1, STK17A	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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ADCY1, AEBP1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40