ClinVar for Gene (Select 81577) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281247	NM_030819.4(GFOD2):c.247G>C (p.Val83Leu)	GFOD2 (V83L)	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 3099475	NM_030819.4(GFOD2):c.926A>G (p.Tyr309Cys)	GFOD2 (Y309C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099474	NM_030819.4(GFOD2):c.736G>A (p.Ala246Thr)	GFOD2 (A246T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099472	NM_030819.4(GFOD2):c.421T>C (p.Tyr141His)	GFOD2 (Y141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099471	NM_030819.4(GFOD2):c.367G>A (p.Val123Met)	GFOD2 (V123M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099469	NM_030819.4(GFOD2):c.167G>A (p.Arg56Gln)	GFOD2 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099468	NM_030819.4(GFOD2):c.1015G>A (p.Glu339Lys)	GFOD2 (E339K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2646636	NM_030819.4(GFOD2):c.414G>A (p.Ser138=)	GFOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2513219	NM_030819.4(GFOD2):c.865G>A (p.Ala289Thr)	GFOD2 (A289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513180	NM_030819.4(GFOD2):c.189T>G (p.His63Gln)	GFOD2 (H63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513179	NM_030819.4(GFOD2):c.184C>A (p.Leu62Met)	GFOD2 (L62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494613	NM_030819.4(GFOD2):c.233C>A (p.Thr78Asn)	GFOD2 (T78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471433	NM_030819.4(GFOD2):c.899C>T (p.Pro300Leu)	GFOD2 (P300L)	Single nucleotide variant (missense variant +1 more)	not specified	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 2398058	NM_030819.4(GFOD2):c.944G>A (p.Arg315His)	GFOD2 (R315H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385636	NM_030819.4(GFOD2):c.391G>A (p.Val131Met)	GFOD2 (V131M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376104	NM_030819.4(GFOD2):c.583G>A (p.Glu195Lys)	GFOD2 (E195K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367456	NM_030819.4(GFOD2):c.634C>T (p.Arg212Cys)	GFOD2 (R212C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362606	NM_030819.4(GFOD2):c.1100C>T (p.Thr367Met)	GFOD2 (T367M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348179	NM_030819.4(GFOD2):c.1136C>T (p.Ala379Val)	GFOD2 (A379V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347969	NM_030819.4(GFOD2):c.102G>C (p.Trp34Cys)	GFOD2 (W34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335590	NM_030819.4(GFOD2):c.668G>A (p.Cys223Tyr)	GFOD2 (C223Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317576	NM_030819.4(GFOD2):c.649G>A (p.Val217Ile)	GFOD2 (V217I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315374	NM_030819.4(GFOD2):c.394C>T (p.Arg132Cys)	GFOD2 (R132C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303028	NM_030819.4(GFOD2):c.390C>A (p.Phe130Leu)	GFOD2 (F130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297271	NM_030819.4(GFOD2):c.536G>A (p.Gly179Glu)	GFOD2 (G179E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281171	NM_030819.4(GFOD2):c.998C>T (p.Ser333Phe)	GFOD2 (S333F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279301	NM_030819.4(GFOD2):c.497G>C (p.Cys166Ser)	GFOD2 (C166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247346	NM_030819.4(GFOD2):c.439A>T (p.Ile147Phe)	GFOD2 (I147F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237959	NM_030819.4(GFOD2):c.332G>A (p.Arg111His)	GFOD2 (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220548	NM_030819.4(GFOD2):c.824C>T (p.Thr275Met)	GFOD2 (T275M)	Single nucleotide variant (missense variant +1 more)	not specified	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
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 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64