3057[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 154809	GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3	DTNA, GALNT1 +38 more	Copy number gain	See cases	GUncertain significance
Select item 383523	NM_032975.4(DTNA):c.-143C>A	DTNA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382004	NM_032975.4(DTNA):c.-127+12G>C	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1291505	NM_032975.4(DTNA):c.-127+62G>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704908	NM_032975.4(DTNA):c.-126-85981G>C	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1252110	NM_032975.4(DTNA):c.-126-85934C>T	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1318000	NM_032975.4(DTNA):c.-126-85723C>T	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271976	NM_032975.4(DTNA):c.-126-99A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377814	NM_032975.4(DTNA):c.-21G>A	DTNA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137174	NM_001386795.1(DTNA):c.-41G>C	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 389077	NM_001386795.1(DTNA):c.-2+6G>T	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1273703	NM_001386795.1(DTNA):c.-2+12T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284129	NM_001386795.1(DTNA):c.-2+231GT[14]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1181084	NM_001386795.1(DTNA):c.-2+231GT[15]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1273441	NM_001386795.1(DTNA):c.-2+231GT[11]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1247380	NM_001386795.1(DTNA):c.-2+231GT[12]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1258003	NM_001386795.1(DTNA):c.-1-287A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669424	NM_001386795.1(DTNA):c.-1-279A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 192362	NM_001386795.1(DTNA):c.-1-25A>G	DTNA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1959610	NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)	DTNA (I2V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1439673	NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe)	DTNA (I2F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2961789	NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)	DTNA (E3D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2046303	NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg)	DTNA (S5R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1125599	NM_001386795.1(DTNA):c.15T>C (p.Ser5=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 3019259	NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)	DTNA (G6R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 46421	NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala)	DTNA (G6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2895904	NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)	DTNA (G9R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2145921	NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala)	DTNA (T11A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1133028	NM_001386795.1(DTNA):c.48A>G (p.Arg16=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 46425	NM_001386795.1(DTNA):c.51G>A (p.Gln17=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1 +2 more	GLikely benign
Select item 326660	NM_001386795.1(DTNA):c.54G>A (p.Leu18=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2815466	NM_001386795.1(DTNA):c.67+7A>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 466629	NM_001386795.1(DTNA):c.67+8T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 227348	NM_001386795.1(DTNA):c.67+12T>A	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1317956	NM_001386795.1(DTNA):c.68-242C>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718453	NM_001386795.1(DTNA):c.68-10C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 523441	NM_001386795.1(DTNA):c.68-7G>A	DTNA	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3024070	NM_001386795.1(DTNA):c.68-6C>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1	GLikely benign
Select item 534961	NM_001386795.1(DTNA):c.68-5A>G	DTNA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1129203	NM_001386795.1(DTNA):c.69G>A (p.Arg23=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 1985277	NM_001386795.1(DTNA):c.78T>C (p.Asp26=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2026958	NM_001386795.1(DTNA):c.79C>T (p.Leu27=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2234416	NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys)	DTNA (R29C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 837704	NM_001386795.1(DTNA):c.86G>A (p.Arg29His)	DTNA (R29H)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1428717	NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe)	DTNA (I30F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1559426	NM_001386795.1(DTNA):c.92G>A (p.Arg31Gln)	DTNA (R31Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GBenign
Select item 1318256	NM_001386795.1(DTNA):c.93A>G (p.Arg31=)	DTNA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1532000	NM_001386795.1(DTNA):c.96C>G (p.Leu32=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2184825	NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe)	DTNA (S33F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1983755	NM_001386795.1(DTNA):c.102C>T (p.Thr34=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 1721774	NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys)	DTNA (Y35C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 191647	NM_001386795.1(DTNA):c.112G>A (p.Ala38Thr)	DTNA (A38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700316	NM_001386795.1(DTNA):c.114A>T (p.Ala38=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 2866895	NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)	DTNA (C39*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 1	GUncertain significance
Select item 504528	NM_001386795.1(DTNA):c.126G>A (p.Arg42=)	DTNA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 918030	NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg)	DTNA (K47R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 623092	NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)	DTNA (N49S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 466627	NM_001386795.1(DTNA):c.148T>G (p.Leu50Val)	DTNA (L50V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2724660	NM_001386795.1(DTNA):c.148+1G>A	DTNA	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 46415	NM_001386795.1(DTNA):c.148+7A>G	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2506266	NM_001386795.1(DTNA):c.148+8T>C	DTNA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1318172	NM_001386795.1(DTNA):c.148+29A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672609	NM_001386795.1(DTNA):c.148+144G>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683478	NM_001386795.1(DTNA):c.149-285A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683479	NM_001386795.1(DTNA):c.149-265A>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675744	NM_001386795.1(DTNA):c.149-181T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674304	NM_001386795.1(DTNA):c.149-128T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510693	NM_001386795.1(DTNA):c.149-15C>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +1 more	GLikely benign
Select item 1156240	NM_001386795.1(DTNA):c.153C>T (p.His51=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 1022023	NM_001386795.1(DTNA):c.154C>G (p.Leu52Val)	DTNA (L52V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1350874	NM_001386795.1(DTNA):c.163A>G (p.Ile55Val)	DTNA (I55V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1399878	NM_001386795.1(DTNA):c.172G>T (p.Val58Phe)	DTNA (V58F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1139585	NM_001386795.1(DTNA):c.174C>T (p.Val58=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 374197	NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)	DTNA (I59M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1 +2 more	GConflicting classifications of pathogenicity
Select item 450421	NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)	DTNA (A61G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1592120	NM_001386795.1(DTNA):c.187C>A (p.Arg63=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1	GLikely benign
Select item 937546	NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly)	DTNA (R63G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 640747	NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln)	DTNA (R63Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 179761	NM_001386795.1(DTNA):c.189G>A (p.Arg63=)	DTNA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2827044	NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)	DTNA (A66S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 2115102	NM_001386795.1(DTNA):c.204del (p.Asn68fs)	DTNA (N68fs)	Deletion (frameshift variant)	Left ventricular noncompaction 1	GUncertain significance

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