ClinVar for Gene (Select 54520) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345883	NM_019044.5(CCDC93):c.1421G>T (p.Arg474Ile)	CCDC93 (R474I)	Single nucleotide variant (missense variant)	CCDC93-related condition	GUncertain significance
Select item 3264435	NM_019044.5(CCDC93):c.892T>C (p.Ser298Pro)	CCDC93 (S298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264434	NM_019044.5(CCDC93):c.4G>C (p.Gly2Arg)	CCDC93 (G2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264433	NM_019044.5(CCDC93):c.761A>T (p.Gln254Leu)	CCDC93 (Q254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264432	NM_019044.5(CCDC93):c.50C>G (p.Thr17Arg)	CCDC93 (T17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264431	NM_019044.5(CCDC93):c.200A>G (p.Asp67Gly)	CCDC93 (D67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264430	NM_019044.5(CCDC93):c.1450A>G (p.Lys484Glu)	CCDC93 (K484E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264428	NM_019044.5(CCDC93):c.512A>T (p.Asp171Val)	CCDC93 (D171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139650	NM_019044.5(CCDC93):c.465T>G (p.Asp155Glu)	CCDC93 (D155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139649	NM_019044.5(CCDC93):c.410A>G (p.Tyr137Cys)	CCDC93 (Y137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139648	NM_019044.5(CCDC93):c.376C>G (p.Arg126Gly)	CCDC93 (R126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139647	NM_019044.5(CCDC93):c.1883C>T (p.Ala628Val)	CCDC93 (A628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139646	NM_019044.5(CCDC93):c.1666C>T (p.Arg556Trp)	CCDC93 (R556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139645	NM_019044.5(CCDC93):c.1384G>A (p.Glu462Lys)	CCDC93 (E462K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139644	NM_019044.5(CCDC93):c.1366C>T (p.Arg456Trp)	CCDC93 (R456W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139643	NM_019044.5(CCDC93):c.1123G>C (p.Glu375Gln)	CCDC93 (E375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 2681703	NM_019044.5(CCDC93):c.50C>T (p.Thr17Ile)	CCDC93 (T17I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2594784	NM_019044.5(CCDC93):c.551G>A (p.Arg184His)	CCDC93 (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590911	NM_019044.5(CCDC93):c.874G>A (p.Glu292Lys)	CCDC93 (E292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590902	NM_019044.5(CCDC93):c.1682G>A (p.Arg561His)	CCDC93 (R561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553970	NM_019044.5(CCDC93):c.950G>A (p.Arg317Gln)	CCDC93 (R317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545028	NM_019044.5(CCDC93):c.520G>A (p.Glu174Lys)	CCDC93 (E174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520132	NM_019044.5(CCDC93):c.1849C>T (p.Arg617Cys)	CCDC93 (R617C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509853	NM_019044.5(CCDC93):c.574C>G (p.Leu192Val)	CCDC93 (L192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409553	NM_019044.5(CCDC93):c.1516C>T (p.Arg506Cys)	CCDC93 (R506C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408843	NM_019044.5(CCDC93):c.806G>A (p.Arg269His)	CCDC93 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394181	NM_019044.5(CCDC93):c.784G>A (p.Ala262Thr)	CCDC93 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383241	NM_019044.5(CCDC93):c.677C>T (p.Ala226Val)	CCDC93 (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372788	NM_019044.5(CCDC93):c.794A>G (p.Asn265Ser)	CCDC93 (N265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372067	NM_019044.5(CCDC93):c.236C>T (p.Thr79Met)	CCDC93 (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360706	NM_019044.5(CCDC93):c.1667G>A (p.Arg556Gln)	CCDC93 (R556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319173	NM_019044.5(CCDC93):c.1838A>G (p.Lys613Arg)	CCDC93 (K613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317340	NM_019044.5(CCDC93):c.464A>G (p.Asp155Gly)	CCDC93 (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302291	NM_019044.5(CCDC93):c.1499G>A (p.Arg500Lys)	CCDC93 (R500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293907	NM_019044.5(CCDC93):c.1603G>A (p.Glu535Lys)	CCDC93 (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277845	NM_019044.5(CCDC93):c.89T>C (p.Ile30Thr)	CCDC93 (I30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265778	NM_019044.5(CCDC93):c.689G>A (p.Gly230Glu)	CCDC93 (G230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251345	NM_019044.5(CCDC93):c.1528G>A (p.Ala510Thr)	CCDC93 (A510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219552	NM_019044.5(CCDC93):c.1058C>T (p.Thr353Met)	CCDC93 (T353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218652	NM_019044.5(CCDC93):c.1447C>T (p.Arg483Cys)	CCDC93 (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1271261	NM_019044.5(CCDC93):c.683C>T (p.Pro228Leu)	CCDC93 (P228L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 562612	GRCh37/hg19 2q14.1-14.2(chr2:118086228-118843437)x3	CCDC93, DDX18	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 59