PARD6A[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2556163	NM_001037281.2(PARD6A):c.32G>A (p.Ser11Asn)	LOC130059225, PARD6A (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053811	NM_001037281.2(PARD6A):c.78C>T (p.Phe26=)	PARD6A	Single nucleotide variant (synonymous variant)	PARD6A-related disorder	GLikely benign
Select item 3208621	NM_001037281.2(PARD6A):c.104C>T (p.Ser35Leu)	PARD6A (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710639	NM_001037281.2(PARD6A):c.189T>C (p.Asp63=)	PARD6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208622	NM_001037281.2(PARD6A):c.300C>A (p.Ser100Arg)	PARD6A (S101R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226198	NM_001037281.2(PARD6A):c.374G>A (p.Arg125His)	PARD6A (R125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311238	NM_001037281.2(PARD6A):c.416G>T (p.Arg139Leu)	PARD6A (R140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208623	NM_001037281.2(PARD6A):c.420G>C (p.Gln140His)	PARD6A (Q141H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304328	NM_001037281.2(PARD6A):c.473G>A (p.Arg158Gln)	PARD6A (R158Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552109	NM_001037281.2(PARD6A):c.528G>T (p.Met176Ile)	PARD6A (M177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051049	NM_001037281.2(PARD6A):c.545C>G (p.Pro182Arg)	PARD6A (P182R +1 more)	Single nucleotide variant (missense variant)	PARD6A-related disorder	GLikely benign
Select item 3208624	NM_001037281.2(PARD6A):c.577A>G (p.Ile193Val)	PARD6A (I194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208625	NM_001037281.2(PARD6A):c.617G>C (p.Gly206Ala)	PARD6A (G207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053287	NM_001037281.2(PARD6A):c.627G>A (p.Ala209=)	PARD6A	Single nucleotide variant (synonymous variant)	PARD6A-related disorder	GLikely benign
Select item 2286716	NM_001037281.2(PARD6A):c.707C>T (p.Ala236Val)	PARD6A (A236V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208626	NM_001037281.2(PARD6A):c.717T>A (p.His239Gln)	PARD6A (H239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208627	NM_001037281.2(PARD6A):c.752G>A (p.Arg251His)	PARD6A (R252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208628	NM_001037281.2(PARD6A):c.834C>G (p.Asp278Glu)	PARD6A (D278E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056133	NM_001037281.2(PARD6A):c.853G>A (p.Val285Ile)	PARD6A (V285I +1 more)	Single nucleotide variant (missense variant)	PARD6A-related disorder	GBenign
Select item 3304329	NM_001037281.2(PARD6A):c.866G>A (p.Arg289His)	PARD6A (R290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591023	NM_001037281.2(PARD6A):c.884A>G (p.Asn295Ser)	PARD6A (N296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516797	NM_001037281.2(PARD6A):c.932G>A (p.Arg311Gln)	PARD6A (R311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208629	NM_001037281.2(PARD6A):c.946C>T (p.Arg316Cys)	PARD6A (R317C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361720	NM_001037281.2(PARD6A):c.998G>A (p.Gly333Glu)	PARD6A (G333E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218497	NM_001037281.2(PARD6A):c.1004G>A (p.Arg335His)	PARD6A (R336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 992641	Single allele	C16orf86, CARMIL2 +6 more	Deletion	Chromosome 16q22 deletion syndrome	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564336	GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1	ENKD1, RANBP10 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59