ClinVar for Gene (Select 55742) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3208855	NM_018222.5(PARVA):c.627C>A (p.Asp209Glu)	PARVA (D209E)	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 3208853	NM_018222.5(PARVA):c.218C>T (p.Thr73Met)	PARVA (T73M)	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 3208851	NM_018222.5(PARVA):c.1055G>A (p.Cys352Tyr)	PARVA (C352Y)	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 3208848	NM_018222.5(PARVA):c.950C>T (p.Pro317Leu)	PARVA (P317L)	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 2554344	NM_018222.5(PARVA):c.-65G>A	PARVA	Single nucleotide variant (5 prime UTR 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 2491225	NM_018222.5(PARVA):c.667G>A (p.Gly223Arg)	PARVA (G223R)	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 2478077	NM_018222.5(PARVA):c.496G>C (p.Glu166Gln)	PARVA (E166Q)	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 2367081	NM_018222.5(PARVA):c.1000A>T (p.Met334Leu)	PARVA (M334L)	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 2304054	NM_018222.5(PARVA):c.273C>A (p.Asp91Glu)	PARVA (D91E)	Single nucleotide variant (missense 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 2228345	NM_018222.5(PARVA):c.583G>A (p.Val195Ile)	PARVA (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	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

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Links from Gene

Items: 34