26358[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2359250	NM_144719.4(CCDC13):c.2093A>G (p.Gln698Arg)	CCDC13 (Q698R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597675	NM_144719.4(CCDC13):c.2068C>T (p.Arg690Trp)	CCDC13 (R690W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516229	NM_144719.4(CCDC13):c.1910G>T (p.Gly637Val)	CCDC13 (G637V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138339	NM_144719.4(CCDC13):c.1909G>A (p.Gly637Arg)	CCDC13 (G637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472972	NM_144719.4(CCDC13):c.1846C>G (p.Gln616Glu)	CCDC13 (Q616E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469535	NM_144719.4(CCDC13):c.1801C>A (p.His601Asn)	CCDC13 (H601N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138338	NM_144719.4(CCDC13):c.1726G>A (p.Glu576Lys)	CCDC13 (E576K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207580	NM_144719.4(CCDC13):c.1717C>T (p.Arg573Trp)	CCDC13 (R573W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253077	NM_144719.4(CCDC13):c.1693G>A (p.Glu565Lys)	CCDC13 (E565K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2522574	NM_144719.4(CCDC13):c.1685G>A (p.Arg562Gln)	CCDC13 (R562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138337	NM_144719.4(CCDC13):c.1684C>T (p.Arg562Trp)	CCDC13 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138336	NM_144719.4(CCDC13):c.1601C>T (p.Ser534Leu)	CCDC13 (S534L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138335	NM_144719.4(CCDC13):c.1561C>T (p.Pro521Ser)	CCDC13, CCDC13-AS1 (P521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264152	NM_144719.4(CCDC13):c.1556C>T (p.Thr519Met)	CCDC13, CCDC13-AS1 (T519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138334	NM_144719.4(CCDC13):c.1531C>T (p.His511Tyr)	CCDC13, CCDC13-AS1 (H511Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138333	NM_144719.4(CCDC13):c.1433C>T (p.Thr478Ile)	CCDC13, CCDC13-AS1 (T478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138332	NM_144719.4(CCDC13):c.1412G>T (p.Arg471Leu)	CCDC13, CCDC13-AS1 (R471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596420	NM_144719.4(CCDC13):c.1412G>A (p.Arg471His)	CCDC13, CCDC13-AS1 (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364343	NM_144719.4(CCDC13):c.1409G>T (p.Gly470Val)	CCDC13, CCDC13-AS1 (G470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331778	NM_144719.4(CCDC13):c.1405A>G (p.Ser469Gly)	CCDC13, CCDC13-AS1 (S469G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521384	NM_144719.4(CCDC13):c.1378C>T (p.Arg460Trp)	CCDC13, CCDC13-AS1 (R460W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263828	NM_144719.4(CCDC13):c.1306A>G (p.Met436Val)	CCDC13, CCDC13-AS1 (M436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138331	NM_144719.4(CCDC13):c.1273C>T (p.Arg425Trp)	CCDC13, CCDC13-AS1 (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332055	NM_144719.4(CCDC13):c.1159C>G (p.Leu387Val)	CCDC13, CCDC13-AS1 (L387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456814	NM_144719.4(CCDC13):c.1069A>C (p.Lys357Gln)	CCDC13, CCDC13-AS1 (K357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138330	NM_144719.4(CCDC13):c.1058G>A (p.Arg353Lys)	CCDC13, CCDC13-AS1 (R353K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529659	NM_144719.4(CCDC13):c.1003C>T (p.Arg335Trp)	CCDC13, CCDC13-AS1 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374733	NM_144719.4(CCDC13):c.968A>G (p.Glu323Gly)	CCDC13, CCDC13-AS1 (E323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213674	NM_144719.4(CCDC13):c.698A>G (p.Gln233Arg)	CCDC13 (Q233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221863	NM_144719.4(CCDC13):c.559G>A (p.Ala187Thr)	CCDC13 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361736	NM_144719.4(CCDC13):c.491G>A (p.Arg164His)	CCDC13 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138343	NM_144719.4(CCDC13):c.490C>T (p.Arg164Cys)	CCDC13 (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263829	NM_144719.4(CCDC13):c.458G>A (p.Gly153Asp)	CCDC13 (G153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138342	NM_144719.4(CCDC13):c.434G>A (p.Arg145Gln)	CCDC13 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309244	NM_144719.4(CCDC13):c.433C>T (p.Arg145Trp)	CCDC13 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138341	NM_144719.4(CCDC13):c.394G>T (p.Val132Leu)	CCDC13 (V132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263827	NM_144719.4(CCDC13):c.385G>A (p.Ala129Thr)	CCDC13 (A129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355946	NM_144719.4(CCDC13):c.382G>A (p.Val128Ile)	CCDC13 (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389586	NM_144719.4(CCDC13):c.379G>A (p.Gly127Ser)	CCDC13 (G127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138340	NM_144719.4(CCDC13):c.311G>C (p.Arg104Thr)	CCDC13 (R104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209785	NM_144719.4(CCDC13):c.232G>A (p.Asp78Asn)	CCDC13 (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263830	NM_144719.4(CCDC13):c.184G>T (p.Ala62Ser)	CCDC13 (A62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653714	NM_144719.4(CCDC13):c.164A>G (p.Asp55Gly)	CCDC13 (D55G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2212156	NM_144719.4(CCDC13):c.134A>T (p.Asp45Val)	CCDC13 (D45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528830	NM_144719.4(CCDC13):c.118C>T (p.Leu40Phe)	CCDC13 (L40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272037	NM_144719.4(CCDC13):c.83A>C (p.Lys28Thr)	CCDC13 (K28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468807	NM_144719.4(CCDC13):c.58G>A (p.Glu20Lys)	CCDC13 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535029	NM_144719.4(CCDC13):c.10G>A (p.Asp4Asn)	CCDC13 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348339	NM_144719.4(CCDC13):c.8C>T (p.Ala3Val)	CCDC13 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 55