54808[geneid] - 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 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 3384215	Single allele	LOC110121416, OSBPL1A +439 more	Deletion	Deletion of long arm of chromosome 18	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 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 326885	NM_001353214.3(DYM):c.*123G>A	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326886	NM_001353214.3(DYM):c.*22G>A	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia +2 more	GLikely benign
Select item 326887	NM_001353214.3(DYM):c.*12T>C	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 502638	NM_001353214.3(DYM):c.2172C>T (p.Asp724=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1702397	NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn)	DYM, DYM-AS1 (D418N +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1902225	NM_001353214.3(DYM):c.2169C>T (p.Ser723=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 326888	NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr)	DYM, DYM-AS1 (D667Y +18 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1595357	NM_001353214.3(DYM):c.2129A>C (p.Tyr710Ser)	DYM, DYM-AS1 (Y404S +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2314143	NM_001353214.3(DYM):c.2122G>A (p.Gly708Ser)	DYM, DYM-AS1 (G463S +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2122231	NM_001353214.3(DYM):c.2115A>G (p.Ser705=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950510	NM_001353214.3(DYM):c.2111A>G (p.Asn704Ser)	DYM, DYM-AS1 (N573S +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078682	NM_001353214.3(DYM):c.2108A>G (p.Tyr703Cys)	DYM, DYM-AS1 (Y457C +18 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 870744	NM_001353214.3(DYM):c.2103_2107del (p.Val702fs)	DYM, DYM-AS1 (V396fs +18 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2042569	NM_001353214.3(DYM):c.2091T>C (p.Tyr697=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3086422	NM_001353214.3(DYM):c.2090A>G (p.Tyr697Cys)	DYM, DYM-AS1 (Y452C +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2088881	NM_001353214.3(DYM):c.2088C>A (p.Pro696=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3506001	NM_001353214.3(DYM):c.2071G>A (p.Glu691Lys)	DYM, DYM-AS1 (E385K +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 326889	NM_001353214.3(DYM):c.2053G>A (p.Val685Met)	DYM-AS1, DYM (V630M +18 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 3191	NM_001353214.3(DYM):c.2043del (p.Lys681fs)	DYM, DYM-AS1 (K626fs +18 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2260292	NM_001353214.3(DYM):c.2026-5T>C	DYM, DYM-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1226923	NM_001353214.3(DYM):c.2026-30G>A	DYM, DYM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265453	NM_001353214.3(DYM):c.2026-88G>A	DYM, DYM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222967	NM_001353214.3(DYM):c.2026-130T>C	DYM, DYM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276579	NM_001353214.3(DYM):c.2026-298G>C	DYM, DYM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 191091	NM_001353214.3(DYM):c.2025+1G>A	DYM	Single nucleotide variant (splice donor variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 3036336	NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro)	DYM (L368P +15 more)	Single nucleotide variant (missense variant +1 more)	DYM-related disorder	GUncertain significance
Select item 3053278	NM_001353214.3(DYM):c.2020C>T (p.Leu674=)	DYM	Single nucleotide variant (synonymous variant +1 more)	DYM-related disorder	GLikely benign
Select item 2176352	NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly)	DYM (R427G +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264214	NM_001353214.3(DYM):c.2008C>T (p.Pro670Ser)	DYM (P425S +15 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519963	NM_001353214.3(DYM):c.2003C>T (p.Ala668Val)	DYM (A362V +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2885657	NM_001353214.3(DYM):c.1998C>T (p.Val666=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 326890	NM_001353214.3(DYM):c.1995C>T (p.Gly665=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 2693024	NM_001353214.3(DYM):c.1986T>C (p.Ile662=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365589	NM_001353214.3(DYM):c.1981A>G (p.Ile661Val)	DYM (I530V +15 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 326891	NM_001353214.3(DYM):c.1977G>A (p.Leu659=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1425774	NM_001353214.3(DYM):c.1970G>A (p.Arg657Gln)	DYM (R351Q +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983133	NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp)	DYM (R411W +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2384809	NM_001353214.3(DYM):c.1952C>T (p.Ala651Val)	DYM (A345V +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 284211	NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	DYM (Q593R +15 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 326892	NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)	DYM (F587L +15 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1916734	NM_001353214.3(DYM):c.1922T>C (p.Phe641Ser)	DYM (F451S +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 326893	NM_001353214.3(DYM):c.1914G>C (p.Val638=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +3 more	GBenign/Likely benign
Select item 2805619	NM_001353214.3(DYM):c.1912-10T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642174	NM_001353214.3(DYM):c.1912-15C>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798941	NM_017653.6(DYM):c.1746+9A>G	DYM	Single nucleotide variant	not provided	GLikely benign
Select item 2909362	NM_001353214.3(DYM):c.1911+2T>C	DYM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1941128	NM_001353214.3(DYM):c.1910T>G (p.Leu637Arg)	DYM (L391R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3274134	NM_001353214.3(DYM):c.1891A>G (p.Ile631Val)	DYM (I500V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1402164	NM_001353214.3(DYM):c.1884T>G (p.Phe628Leu)	DYM (F512L +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924737	NM_001353214.3(DYM):c.1877C>G (p.Pro626Arg)	DYM (P381R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2553422	NM_001353214.3(DYM):c.1870A>G (p.Thr624Ala)	DYM (T378A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 326894	NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)	DYM (R568Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3064949	NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter)	DYM (R377* +11 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 1313776	NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn)	DYM (D371N +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962486	NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr)	DYM (A480T +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194545	NM_001353214.3(DYM):c.1827A>G (p.Val609=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1613848	NM_001353214.3(DYM):c.1809C>T (p.His603=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1583898	NM_001353214.3(DYM):c.1792C>T (p.Leu598=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3193	NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg)	DYM (C542R +11 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia 1	GPathogenic
Select item 161709	NM_001353214.3(DYM):c.1779C>G (p.Ile593Met)	DYM (I538M +11 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2715044	NM_001353214.3(DYM):c.1776G>A (p.Glu592=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992365	NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)	DYM (R342* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1638449	NM_001353214.3(DYM):c.1740A>G (p.Leu580=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940690	NM_001353214.3(DYM):c.1729G>T (p.Ala577Ser)	DYM (A521S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1180713	NM_001353214.3(DYM):c.1729-1G>A	DYM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1001383	NM_001353214.3(DYM):c.1729-5A>G	DYM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1233765	NM_001353214.3(DYM):c.1729-78G>C	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221481	NM_001353214.3(DYM):c.1728+178C>T	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047442	NM_001353214.3(DYM):c.1728+7_1728+8insTACT	DYM	Insertion (intron variant)	DYM-related disorder	GLikely benign
Select item 1048090	NM_001353214.3(DYM):c.1728+2T>C	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic/Likely pathogenic
Select item 2105523	NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe)	DYM (Y331F +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283838	NM_001353214.3(DYM):c.1717C>T (p.Leu573=)	DYM	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 1723359	NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)	DYM (S319L +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958692	NM_001353214.3(DYM):c.1692T>G (p.Gly564=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982956	NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter)	DYM (Q314* +12 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265106	NM_001353214.3(DYM):c.1669C>T (p.Gln557Ter)	DYM (Q502* +12 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1572949	NM_001353214.3(DYM):c.1659A>G (p.Lys553=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500997	NM_001353214.3(DYM):c.1654A>G (p.Asn552Asp)	DYM (N307D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048089	NM_001353214.3(DYM):c.1653_1654del (p.His551fs)	DYM (H305fs +12 more)	Microsatellite (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1048086	NM_001353214.3(DYM):c.1650dup (p.His551fs)	DYM (H305fs +12 more)	Duplication (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 3506003	NM_001353214.3(DYM):c.1626T>C (p.Ser542=)	DYM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2742753	NM_001353214.3(DYM):c.1626-1G>T	DYM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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