4677[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 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 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 1290112	NM_004539.4(NARS1):c.*18G>A	NARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2648745	NM_004539.4(NARS1):c.1640C>T (p.Thr547Met)	NARS1 (T547M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 986305	NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	NARS1 (R545C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 3175648	NM_004539.4(NARS1):c.1616A>G (p.Tyr539Cys)	NARS1 (Y539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175643	NM_004539.4(NARS1):c.1606G>A (p.Val536Met)	NARS1 (V536M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557691	NM_004539.4(NARS1):c.1601G>A (p.Arg534Gln)	NARS1 (R534Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982711	NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	NARS1 (R534*)	Single nucleotide variant (nonsense)	Developmental disorder +4 more	GPathogenic
Select item 2502662	NM_004539.4(NARS1):c.1597A>G (p.Ile533Val)	NARS1 (I533V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648746	NM_004539.4(NARS1):c.1575G>A (p.Thr525=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175641	NM_004539.4(NARS1):c.1574C>T (p.Thr525Met)	NARS1 (T525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2766578	NM_004539.4(NARS1):c.1568T>C (p.Phe523Ser)	NARS1 (F523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700050	NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)	NARS1 (R522*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GPathogenic/Likely pathogenic
Select item 2628986	NM_004539.4(NARS1):c.1561G>C (p.Glu521Gln)	NARS1 (E521Q)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 3237544	NM_004539.4(NARS1):c.1555G>A (p.Gly519Ser)	NARS1 (G519S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1077118	NM_004539.4(NARS1):c.1525G>A (p.Gly509Ser)	NARS1 (G509S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 2648747	NM_004539.4(NARS1):c.1524C>T (p.Tyr508=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339623	NM_004539.4(NARS1):c.1522T>C (p.Tyr508His)	NARS1 (Y508H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027005	NM_004539.4(NARS1):c.1509G>A (p.Thr503=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575616	NM_004539.4(NARS1):c.1495T>C (p.Tyr499His)	NARS1 (Y499H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648748	NM_004539.4(NARS1):c.1491del (p.Tyr499fs)	NARS1 (Y499fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3368592	NM_004539.4(NARS1):c.1477G>A (p.Gly493Arg)	NARS1 (G493R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175638	NM_004539.4(NARS1):c.1435A>G (p.Ile479Val)	NARS1 (I479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473696	NM_004539.4(NARS1):c.1417G>A (p.Val473Met)	NARS1 (V473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780480	NM_004539.4(NARS1):c.1389C>T (p.Asp463=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3364073	NM_004539.4(NARS1):c.1376C>G (p.Thr459Ser)	NARS1 (T459S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712061	NM_004539.4(NARS1):c.1375dup (p.Thr459fs)	NARS1 (T459fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1077117	NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile)	NARS1 (T459I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3025315	NM_004539.4(NARS1):c.1369C>T (p.Arg457Cys)	NARS1 (R457C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252608	NM_004539.4(NARS1):c.1351C>T (p.Arg451Ter)	NARS1 (R451*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3175633	NM_004539.4(NARS1):c.1324G>A (p.Val442Met)	NARS1 (V442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341007	NM_004539.4(NARS1):c.1319T>C (p.Phe440Ser)	NARS1 (F440S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3175629	NM_004539.4(NARS1):c.1303A>G (p.Ile435Val)	NARS1 (I435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175628	NM_004539.4(NARS1):c.1264G>C (p.Ala422Pro)	NARS1 (A422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1077116	NM_004539.4(NARS1):c.1264G>A (p.Ala422Thr)	NARS1 (A422T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2505476	NM_004539.4(NARS1):c.1251+699A>G	NARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1810470	NM_004539.4(NARS1):c.1218G>T (p.Lys406Asn)	NARS1 (K406N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175626	NM_004539.4(NARS1):c.1213G>A (p.Val405Ile)	NARS1 (V405I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2672730	NM_004539.4(NARS1):c.1202A>C (p.Lys401Thr)	NARS1 (K401T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175624	NM_004539.4(NARS1):c.1192G>A (p.Val398Ile)	NARS1 (V398I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524841	NM_004539.4(NARS1):c.1189A>G (p.Ile397Val)	NARS1 (I397V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2662109	NM_004539.4(NARS1):c.1175A>C (p.Asn392Thr)	NARS1 (N392T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175616	NM_004539.4(NARS1):c.1169G>A (p.Arg390Gln)	NARS1 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363371	NM_004539.4(NARS1):c.1168C>T (p.Arg390Trp)	NARS1 (R390W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175611	NM_004539.4(NARS1):c.1154A>G (p.Lys385Arg)	NARS1 (K385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648749	NM_004539.4(NARS1):c.1152C>A (p.Pro384=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648750	NM_004539.4(NARS1):c.1151C>T (p.Pro384Leu)	NARS1 (P384L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2835862	NM_004539.4(NARS1):c.1138A>G (p.Asn380Asp)	NARS1 (N380D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331190	NM_004539.4(NARS1):c.1130T>C (p.Leu377Pro)	NARS1 (L377P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175602	NM_004539.4(NARS1):c.1124A>G (p.His375Arg)	NARS1 (H375R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3336498	NM_004539.4(NARS1):c.1108G>A (p.Ala370Thr)	NARS1 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364688	NM_004539.4(NARS1):c.1101G>C (p.Lys367Asn)	NARS1 (K367N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810001	NM_004539.4(NARS1):c.1091G>T (p.Arg364Leu)	NARS1 (R364L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983068	NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	NARS1 (D356A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3342322	NM_004539.4(NARS1):c.1058G>C (p.Arg353Pro)	NARS1 (R353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337384	NM_004539.4(NARS1):c.1058G>A (p.Arg353Gln)	NARS1 (R353Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801359	NM_004539.4(NARS1):c.1057C>T (p.Arg353Trp)	NARS1 (R353W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1077115	NM_004539.4(NARS1):c.1049T>C (p.Leu350Pro)	NARS1 (L350P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2648751	NM_004539.4(NARS1):c.1044C>T (p.Asp348=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175596	NM_004539.4(NARS1):c.1042G>T (p.Asp348Tyr)	NARS1 (D348Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801358	NM_004539.4(NARS1):c.1040T>C (p.Phe347Ser)	NARS1 (F347S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2648752	NM_004539.4(NARS1):c.1038T>G (p.Thr346=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501465	NM_004539.4(NARS1):c.1025G>A (p.Cys342Tyr)	NARS1 (C342Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526422	NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)	NARS1 (R329Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 1879399	NM_004539.4(NARS1):c.967G>A (p.Ala323Thr)	NARS1 (A323T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077114	NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)	NARS1 (R322L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GLikely pathogenic
Select item 3175714	NM_004539.4(NARS1):c.957G>T (p.Gln319His)	NARS1 (Q319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3368911	NM_004539.4(NARS1):c.955C>T (p.Gln319Ter)	NARS1 (Q319*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2496124	NM_004539.4(NARS1):c.949A>G (p.Ile317Val)	NARS1 (I317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175709	NM_004539.4(NARS1):c.947G>A (p.Cys316Tyr)	NARS1 (C316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175703	NM_004539.4(NARS1):c.941T>C (p.Val314Ala)	NARS1 (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703959	NM_004539.4(NARS1):c.935G>C (p.Gly312Ala)	NARS1 (G312A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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