EXD2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic
Select item 2456730	NM_001193360.2(EXD2):c.88C>T (p.Arg30Cys)	EXD2, GALNT16-AS1 (R30C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090964	NM_001193360.2(EXD2):c.91C>T (p.Arg31Cys)	EXD2, GALNT16-AS1 (R31C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275492	NM_001193360.2(EXD2):c.92G>C (p.Arg31Pro)	EXD2, GALNT16-AS1 (R31P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289647	NM_001193360.2(EXD2):c.128C>T (p.Pro43Leu)	EXD2, GALNT16-AS1 (P43L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090947	NM_001193360.2(EXD2):c.139G>T (p.Val47Leu)	EXD2, GALNT16-AS1 (V47L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493171	NM_001193360.2(EXD2):c.148A>G (p.Ser50Gly)	EXD2, GALNT16-AS1 (S50G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090956	NM_001193360.2(EXD2):c.199A>G (p.Arg67Gly)	EXD2, GALNT16-AS1 (R67G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090957	NM_001193360.2(EXD2):c.206C>T (p.Ser69Leu)	EXD2, GALNT16-AS1 (S69L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237272	NM_001193360.2(EXD2):c.217C>T (p.Arg73Trp)	EXD2, GALNT16-AS1 (R73W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090958	NM_001193360.2(EXD2):c.292G>A (p.Glu98Lys)	EXD2, GALNT16-AS1 (E98K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090959	NM_001193360.2(EXD2):c.305T>C (p.Phe102Ser)	EXD2, GALNT16-AS1 (F102S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090960	NM_001193360.2(EXD2):c.307C>T (p.Pro103Ser)	EXD2, GALNT16-AS1 (P103S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292601	NM_001193360.2(EXD2):c.410G>A (p.Arg137His)	EXD2, GALNT16-AS1 (R137H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292794	NM_001193360.2(EXD2):c.428G>A (p.Cys143Tyr)	EXD2, GALNT16-AS1 (C18Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090961	NM_001193360.2(EXD2):c.544G>C (p.Val182Leu)	EXD2, GALNT16-AS1 (V182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090962	NM_001193360.2(EXD2):c.569G>A (p.Arg190Gln)	EXD2, GALNT16-AS1 (R65Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494158	NM_001193360.2(EXD2):c.595A>T (p.Asn199Tyr)	EXD2, GALNT16-AS1 (N74Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229501	NM_001193360.2(EXD2):c.628C>T (p.Leu210Phe)	EXD2, GALNT16-AS1 (L210F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484745	NM_001193360.2(EXD2):c.631G>A (p.Ala211Thr)	EXD2, GALNT16-AS1 (A211T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408246	NM_001193360.2(EXD2):c.677G>A (p.Arg226His)	EXD2, GALNT16-AS1 (R101H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604487	NM_001193360.2(EXD2):c.686A>G (p.Asn229Ser)	EXD2, GALNT16-AS1 (N229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247453	NM_001193360.2(EXD2):c.788C>G (p.Ser263Cys)	EXD2, GALNT16-AS1 (S263C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090963	NM_001193360.2(EXD2):c.814G>A (p.Asp272Asn)	EXD2, GALNT16-AS1 (D272N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236106	NM_001193360.2(EXD2):c.823A>G (p.Ser275Gly)	EXD2, GALNT16-AS1 (S275G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477179	NM_001193360.2(EXD2):c.902G>C (p.Gly301Ala)	EXD2, GALNT16-AS1 (G301A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090965	NM_001193360.2(EXD2):c.967G>A (p.Asp323Asn)	EXD2, GALNT16-AS1 (D323N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090946	NM_001193360.2(EXD2):c.1000G>T (p.Asp334Tyr)	EXD2, GALNT16-AS1 (D334Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610816	NM_001193360.2(EXD2):c.1139T>C (p.Leu380Pro)	EXD2, GALNT16-AS1 (L380P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234668	NM_001193360.2(EXD2):c.1151T>C (p.Ile384Thr)	EXD2, GALNT16-AS1 (I259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555666	NM_001193360.2(EXD2):c.1202C>T (p.Pro401Leu)	EXD2, GALNT16-AS1 (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368724	NM_001193360.2(EXD2):c.1216G>A (p.Glu406Lys)	EXD2, GALNT16-AS1 (E406K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319140	NM_001193360.2(EXD2):c.1250A>C (p.Glu417Ala)	EXD2, GALNT16-AS1 (E417A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407683	NM_001193360.2(EXD2):c.1331C>G (p.Pro444Arg)	EXD2, GALNT16-AS1 (P319R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090948	NM_001193360.2(EXD2):c.1495C>T (p.Arg499Cys)	EXD2, GALNT16-AS1 (R374C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090949	NM_001193360.2(EXD2):c.1499G>A (p.Arg500Gln)	EXD2, GALNT16-AS1 (R500Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090950	NM_001193360.2(EXD2):c.1504G>C (p.Val502Leu)	EXD2, GALNT16-AS1 (V377L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348835	NM_001193360.2(EXD2):c.1522G>A (p.Ala508Thr)	EXD2, GALNT16-AS1 (A383T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090951	NM_001193360.2(EXD2):c.1535C>T (p.Ala512Val)	EXD2, GALNT16-AS1 (A387V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468335	NM_001193360.2(EXD2):c.1553A>G (p.Gln518Arg)	EXD2, GALNT16-AS1 (Q393R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090952	NM_001193360.2(EXD2):c.1556G>A (p.Arg519Gln)	EXD2, GALNT16-AS1 (R394Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090953	NM_001193360.2(EXD2):c.1602C>T (p.Asp534=)	EXD2, GALNT16-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2556236	NM_001193360.2(EXD2):c.1717C>T (p.Arg573Cys)	EXD2, GALNT16-AS1 (R448C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393107	NM_001193360.2(EXD2):c.1738A>G (p.Ser580Gly)	EXD2, GALNT16-AS1 (S455G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282803	NM_001193360.2(EXD2):c.1828C>T (p.Arg610Trp)	EXD2, GALNT16-AS1 (R485W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353163	NM_001193360.2(EXD2):c.1834T>G (p.Phe612Val)	EXD2, GALNT16-AS1 (F612V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090955	NM_001193360.2(EXD2):c.1847T>C (p.Leu616Pro)	EXD2, GALNT16-AS1 (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477974	NM_001193360.2(EXD2):c.1852A>G (p.Ile618Val)	EXD2, GALNT16-AS1 (I618V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	GALNT16, ZFP36L1 +13 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 57