10667[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 1317893	NM_020408.6(LYRM4):c.86+248G>A	FARS2, LYRM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181408	NM_020408.6(LYRM4):c.86+187G>A	LYRM4, LOC129995672 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292511	NM_020408.6(LYRM4):c.86+130G>C	FARS2, LOC129995672 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292135	NM_020408.6(LYRM4):c.86+69G>C	FARS2, LOC129995672 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261629	NM_020408.6(LYRM4):c.86+65T>C	FARS2, LOC129995672 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 809862	NM_020408.6(LYRM4):c.78C>T (p.Tyr26=)	FARS2, LOC129995672 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2148796	NM_020408.6(LYRM4):c.75C>T (p.Ala25=)	FARS2, LOC129995672 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3121718	NM_020408.6(LYRM4):c.63G>C (p.Lys21Asn)	FARS2, LOC129995672 +1 more (K21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402657	NM_020408.6(LYRM4):c.40C>T (p.Arg14Trp)	FARS2, LOC129995672 +1 more (R14W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1522618	NM_020408.6(LYRM4):c.36_37del (p.Tyr13fs)	FARS2, LOC129995672 +1 more (Y13fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2402656	NM_020408.6(LYRM4):c.34C>G (p.Leu12Val)	FARS2, LOC129995672 +1 more (L12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 513283	NM_020408.6(LYRM4):c.33T>G (p.Ser11=)	FARS2, LOC129995672 +1 more	Single nucleotide variant (synonymous variant +1 more)	LYRM4-related disorder +2 more	GLikely benign
Select item 380035	NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala)	FARS2, LOC129995672 +1 more (S11A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1417275	NM_020408.6(LYRM4):c.19G>A (p.Ala7Thr)	FARS2, LOC129995672 +1 more (A7T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1499608	NM_020408.6(LYRM4):c.8C>T (p.Ala3Val)	FARS2, LOC129995672 +1 more (A3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 547901	NM_020408.6(LYRM4):c.7G>A (p.Ala3Thr)	FARS2, LOC129995672 +1 more (A3T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 19	GUncertain significance
Select item 1292064	NM_020408.6(LYRM4):c.-11_-10dup	FARS2, LOC129995672 +1 more	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 516404	NM_020408.6(LYRM4):c.-10dup	FARS2, LOC129995672 +1 more	Duplication (5 prime UTR variant +1 more)	not specified	GBenign
Select item 508305	NM_020408.6(LYRM4):c.-46T>C	LYRM4, FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 676278	NM_020408.6(LYRM4):c.-170C>T	FARS2, LOC129995673 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 676277	NM_001318872.2(FARS2):c.-350C>T	FARS2, LOC129995673 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 676237	NM_001318872.2(FARS2):c.-321G>A	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1233400	NM_001318872.2(FARS2):c.-305T>G	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 680626	NM_001318872.2(FARS2):c.-254A>G	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1318205	NM_001318872.2(FARS2):c.-225C>T	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 680634	NM_001318872.2(FARS2):c.-153A>C	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1293909	NM_001318872.2(FARS2):c.-139_-116del	FARS2, LYRM4	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1329641	NM_001318872.2(FARS2):c.-73C>T	FARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1257643	NM_006567.4(FARS2):c.-340T>C	FARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250689	NM_006567.4(FARS2):c.-314T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243161	NM_006567.4(FARS2):c.-312T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1182999	NM_006567.4(FARS2):c.-307T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1190549	NM_006567.4(FARS2):c.-262G>C	FARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291334	NM_006567.4(FARS2):c.-234A>G	FARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288931	NM_006567.5(FARS2):c.-70A>G	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248756	NM_006567.5(FARS2):c.-22+94A>T	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 587674	NC_000006.11:g.5262296_5395849del133554	LOC129995674, LOC129995675 +6 more	Deletion	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 150115	GRCh38/hg38 6p25.1(chr6:5315620-5695253)x1	FARS2, FARS2-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 1193916	NM_006567.5(FARS2):c.-21-272C>T	FARS2, LOC126859565	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 540542	NC_000006.12:g.(?_5368551)_(5431192_?)del	FARS2, LOC126859565 +1 more	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 473306	NC_000006.12:g.(?_5368551)_(5369202_?)del	FARS2, LOC126859565	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 1067279	NM_006567.5(FARS2):c.3G>T (p.Met1Ile)	FARS2, LOC126859565 (M1I)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 861687	NM_006567.5(FARS2):c.4G>T (p.Val2Leu)	FARS2, LOC126859565 (V2L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 962494	NM_006567.5(FARS2):c.6G>A (p.Val2=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1992777	NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)	FARS2, LOC126859565 (G3S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 975692	NM_006567.5(FARS2):c.8G>T (p.Gly3Val)	FARS2, LOC126859565 (G3V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 2861363	NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)	FARS2, LOC126859565 (S4*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 950127	NM_006567.5(FARS2):c.17T>C (p.Leu6Pro)	FARS2, LOC126859565 (L6P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1353934	NM_006567.5(FARS2):c.20G>A (p.Arg7Lys)	FARS2, LOC126859565 (R7K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 571907	NM_006567.5(FARS2):c.21G>T (p.Arg7Ser)	FARS2, LOC126859565 (R7S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1375178	NM_006567.5(FARS2):c.28G>A (p.Ala10Thr)	FARS2, LOC126859565 (A10T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 587648	NM_006567.5(FARS2):c.28G>T (p.Ala10Ser)	FARS2, LOC126859565 (A10S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 842034	NM_006567.5(FARS2):c.68T>A (p.Ile23Asn)	FARS2, LOC126859565 (I23N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 940691	NM_006567.5(FARS2):c.70T>A (p.Ser24Thr)	FARS2, LOC126859565 (S24T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1086083	NM_006567.5(FARS2):c.72C>T (p.Ser24=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1018888	NM_006567.5(FARS2):c.80A>G (p.His27Arg)	FARS2, LOC126859565 (H27R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
Select item 1118624	NM_006567.5(FARS2):c.84G>A (p.Gln28=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1518462	NM_006567.5(FARS2):c.86A>G (p.His29Arg)	FARS2, LOC126859565 (H29R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1498833	NM_006567.5(FARS2):c.91G>A (p.Ala31Thr)	FARS2, LOC126859565 (A31T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1361257	NM_006567.5(FARS2):c.94T>A (p.Trp32Arg)	FARS2, LOC126859565 (W32R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 214326	NM_006567.5(FARS2):c.101C>T (p.Ser34Leu)	LOC126859565, FARS2 (S34L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GConflicting classifications of pathogenicity
Select item 137288	NM_006567.5(FARS2):c.102G>A (p.Ser34=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2986631	NM_006567.5(FARS2):c.108T>C (p.Pro36=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1950051	NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)	FARS2, LOC126859565 (A38E)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1562462	NM_006567.5(FARS2):c.120G>A (p.Glu40=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 963163	NM_006567.5(FARS2):c.120G>T (p.Glu40Asp)	FARS2, LOC126859565 (E40D)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1959953	NM_006567.5(FARS2):c.125C>T (p.Ala42Val)	FARS2, LOC126859565 (A42V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2055353	NM_006567.5(FARS2):c.126C>T (p.Ala42=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 653043	NM_006567.5(FARS2):c.128C>G (p.Thr43Ser)	FARS2, LOC126859565 (T43S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1396251	NM_006567.5(FARS2):c.131A>G (p.Gln44Arg)	FARS2, LOC126859565 (Q44R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1112259	NM_006567.5(FARS2):c.138T>C (p.Ala46=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1050920	NM_006567.5(FARS2):c.139C>T (p.Pro47Ser)	FARS2, LOC126859565 (P47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2047981	NM_006567.5(FARS2):c.141A>G (p.Pro47=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1476092	NM_006567.5(FARS2):c.146G>A (p.Ser49Asn)	FARS2, LOC126859565 (S49N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1081130	NM_006567.5(FARS2):c.150G>A (p.Val50=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2059698	NM_006567.5(FARS2):c.151G>C (p.Val51Leu)	LOC126859565, FARS2 (V51L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance

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