PARVA[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 57271	GRCh38/hg38 11p15.3(chr11:12147544-12638655)x3	LOC112042781, LOC112042782 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2554344	NM_018222.5(PARVA):c.-65G>A	PARVA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3304418	NM_018222.5(PARVA):c.-47G>C	PARVA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2269236	NM_018222.5(PARVA):c.85T>C (p.Phe29Leu)	PARVA (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393831	NM_018222.5(PARVA):c.97C>G (p.Leu33Val)	PARVA (L33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208852	NM_018222.5(PARVA):c.191T>C (p.Ile64Thr)	PARVA (I64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208853	NM_018222.5(PARVA):c.218C>T (p.Thr73Met)	PARVA (T73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304417	NM_018222.5(PARVA):c.272A>T (p.Asp91Val)	PARVA (D91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304054	NM_018222.5(PARVA):c.273C>A (p.Asp91Glu)	PARVA (D91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208854	NM_018222.5(PARVA):c.347T>C (p.Val116Ala)	PARVA (V116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478077	NM_018222.5(PARVA):c.496G>C (p.Glu166Gln)	PARVA (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228345	NM_018222.5(PARVA):c.583G>A (p.Val195Ile)	PARVA (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208855	NM_018222.5(PARVA):c.627C>A (p.Asp209Glu)	PARVA (D209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482711	NM_018222.5(PARVA):c.662G>T (p.Arg221Leu)	PARVA (R221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491225	NM_018222.5(PARVA):c.667G>A (p.Gly223Arg)	PARVA (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308408	NM_018222.5(PARVA):c.702A>G (p.Ile234Met)	PARVA (I234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208856	NM_018222.5(PARVA):c.713C>T (p.Thr238Ile)	PARVA (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511784	NM_018222.5(PARVA):c.721C>G (p.Leu241Val)	PARVA (L241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641615	NM_018222.5(PARVA):c.891G>A (p.Val297=)	PARVA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208848	NM_018222.5(PARVA):c.950C>T (p.Pro317Leu)	PARVA (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367081	NM_018222.5(PARVA):c.1000A>T (p.Met334Leu)	PARVA (M334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208849	NM_018222.5(PARVA):c.1045A>G (p.Ile349Val)	PARVA (I349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208851	NM_018222.5(PARVA):c.1055G>A (p.Cys352Tyr)	PARVA (C352Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304419	NM_018222.5(PARVA):c.1114G>C (p.Glu372Gln)	PARVA (E372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37