VOPP1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 2314696	NM_030796.5(VOPP1):c.496G>A (p.Glu166Lys)	VOPP1 (E157K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246192	NM_030796.5(VOPP1):c.455C>T (p.Pro152Leu)	VOPP1 (P135L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281731	NM_030796.5(VOPP1):c.407T>C (p.Met136Thr)	VOPP1 (M133T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296778	NM_030796.5(VOPP1):c.406A>G (p.Met136Val)	VOPP1 (M136V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602000	NM_030796.5(VOPP1):c.400A>G (p.Met134Val)	VOPP1 (H96R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520415	NM_030796.5(VOPP1):c.391G>A (p.Gly131Arg)	VOPP1 (G105R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315802	NM_030796.5(VOPP1):c.389T>C (p.Val130Ala)	VOPP1 (V121A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478711	NM_030796.5(VOPP1):c.385C>A (p.Pro129Thr)	VOPP1 (P127T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307668	NM_030796.5(VOPP1):c.374C>T (p.Pro125Leu)	VOPP1 (P108L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253196	NM_030796.5(VOPP1):c.361G>C (p.Asp121His)	VOPP1 (D112H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311635	NM_030796.5(VOPP1):c.255G>A (p.Met85Ile)	VOPP1 (M59I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594754	NM_030796.5(VOPP1):c.232G>A (p.Gly78Ser)	VOPP1 (G52S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188729	NM_030796.5(VOPP1):c.211G>A (p.Val71Met)	VOPP1 (V62M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551021	NM_030796.5(VOPP1):c.208G>T (p.Gly70Cys)	VOPP1 (G32V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529848	NM_030796.5(VOPP1):c.171A>G (p.Ile57Met)	VOPP1 (I40M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188728	NM_030796.5(VOPP1):c.157C>T (p.Arg53Trp)	VOPP1 (A59V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552400	NM_030796.5(VOPP1):c.119G>T (p.Arg40Leu)	VOPP1 (R23L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188730	NM_030796.5(VOPP1):c.70A>G (p.Lys24Glu)	VOPP1 (K21E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 150708	GRCh38/hg38 7p11.2(chr7:55560824-55660814)x3	LOC123956151, LOC129998480 +9 more	Copy number gain	See cases	GLikely benign
Select item 2324337	NM_030796.5(VOPP1):c.40G>C (p.Gly14Arg)	LOC129998485, VOPP1 (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2533246	NM_030796.5(VOPP1):c.22G>A (p.Val8Met)	LOC129998485, VOPP1 (V8M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	not provided	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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
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 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 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

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Items: 42