4311[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 148686	GRCh38/hg38 3q25.2(chr3:154358336-155102453)x1	GPR149, LOC123230397 +5 more	Copy number loss	See cases	GLikely benign
Select item 147778	GRCh38/hg38 3q25.2(chr3:154817795-155269377)x1	LINC01487, LOC121725159 +4 more	Copy number loss	See cases	GUncertain significance
Select item 60122	GRCh38/hg38 3q25.2(chr3:154843789-155242564)x1	LINC01487, LOC121725159 +4 more	Copy number loss	See cases	GUncertain significance
Select item 60123	GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1	LINC01487, LOC121725159 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1203738	NM_007289.4(MME):c.-10-312C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258480	NM_007289.4(MME):c.-10-210A>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279010	NM_007289.4(MME):c.-10-115G>A	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193895	NM_007289.4(MME):c.-10-17A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426601	NM_007289.4(MME):c.-10-1G>T	MME	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2883909	NM_007289.4(MME):c.11C>G (p.Ser4Ter)	MME (S4*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2751588	NM_007289.4(MME):c.19dup (p.Gln7fs)	MME (Q7fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1221640	NM_007289.4(MME):c.22A>G (p.Met8Val)	MME (M8V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1470627	NM_007289.4(MME):c.25G>A (p.Asp9Asn)	MME (D9N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391518	NM_007289.4(MME):c.25G>C (p.Asp9His)	MME (D9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944274	NM_007289.4(MME):c.26A>G (p.Asp9Gly)	MME (D9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518650	NM_007289.4(MME):c.38T>C (p.Ile13Thr)	MME (I13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596062	NM_007289.4(MME):c.42C>T (p.Asn14=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305169	NM_007289.4(MME):c.47C>A (p.Pro16Gln)	MME (P16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1960644	NM_007289.4(MME):c.53C>T (p.Pro18Leu)	MME (P18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3218512	NM_007289.4(MME):c.55A>G (p.Lys19Glu)	MME (K19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1477518	NM_007289.4(MME):c.56A>G (p.Lys19Arg)	MME (K19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168396	NM_007289.4(MME):c.66G>A (p.Gln22=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353913	NM_007289.4(MME):c.66G>C (p.Gln22His)	MME (Q22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068898	NM_007289.4(MME):c.67C>T (p.Arg23Ter)	MME (R23*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1220354	NM_007289.4(MME):c.68G>A (p.Arg23Gln)	MME (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265743	NM_007289.4(MME):c.71G>A (p.Trp24Ter)	MME (W24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1498342	NM_007289.4(MME):c.72G>T (p.Trp24Cys)	MME (W24C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900705	NM_007289.4(MME):c.78A>G (p.Pro26=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559411	NM_007289.4(MME):c.96G>A (p.Ser32=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402948	NM_007289.4(MME):c.97G>A (p.Val33Ile)	MME (V33I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946931	NM_007289.4(MME):c.103G>A (p.Val35Ile)	MME (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386643	NM_007289.4(MME):c.112C>G (p.Leu38Val)	MME (L38V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2768496	NM_007289.4(MME):c.117C>G (p.Thr39=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094322	NM_007289.4(MME):c.121_125delinsCTATGA (p.Ile41_Ala42delinsLeuTer)	MME	Indel (nonsense)	not provided	GPathogenic
Select item 1469104	NM_007289.4(MME):c.124G>A (p.Ala42Thr)	MME (A42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482637	NM_007289.4(MME):c.131C>A (p.Thr44Lys)	MME (T44K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499657	NM_007289.4(MME):c.134T>C (p.Met45Thr)	MME (M45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416032	NM_007289.4(MME):c.138C>T (p.Ile46=)	MME	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1509433	NM_007289.4(MME):c.139G>A (p.Ala47Thr)	MME (A47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358285	NM_007289.4(MME):c.146A>G (p.Tyr49Cys)	MME (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130167	NM_007289.4(MME):c.154T>G (p.Tyr52Asp)	MME (Y52D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358894	NM_007289.4(MME):c.155A>G (p.Tyr52Cys)	MME (Y52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413259	NM_007289.4(MME):c.156C>T (p.Tyr52=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512273	NM_007289.4(MME):c.157G>A (p.Asp53Asn)	MME (D53N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441453	NM_007289.4(MME):c.160+1G>A	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 624032	NM_007289.4(MME):c.160+2T>C	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 624033	NM_007289.4(MME):c.160+8A>G	MME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1190045	NM_007289.4(MME):c.160+13C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2093116	NM_007289.4(MME):c.160+14A>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196286	NM_007289.4(MME):c.160+15C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1252689	NM_007289.4(MME):c.161-106T>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1605576	NM_007289.4(MME):c.161-20A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909732	NM_007289.4(MME):c.161-17T>G	MME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1899765	NM_007289.4(MME):c.161-15C>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665408	NM_007289.4(MME):c.161-13C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659324	NM_007289.4(MME):c.161-11C>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201577	NM_007289.4(MME):c.161-11C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739606	NM_007289.4(MME):c.161-9T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613245	NM_007289.4(MME):c.162T>C (p.Asp54=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3588697	NM_007289.4(MME):c.187A>C (p.Ile63Leu)	MME (I63L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 43 +1 more	GUncertain significance
Select item 3015508	NM_007289.4(MME):c.189A>C (p.Ile63=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676248	NM_007289.4(MME):c.193T>C (p.Ser65Pro)	MME (S65P)	Single nucleotide variant (missense variant)	MME-related autosomal dominant Charcot Marie Tooth disease type 2 +1 more	GUncertain significance
Select item 1532211	NM_007289.4(MME):c.196+10G>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918864	NM_007289.4(MME):c.196+15T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643707	NM_007289.4(MME):c.196+18C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1541044	NM_007289.4(MME):c.196+19G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249724	NM_007289.4(MME):c.196+37T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218443	NM_007289.4(MME):c.196+133T>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654245	NM_007289.4(MME):c.196+4771G>C	MME	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1212147	NM_007289.4(MME):c.197-104G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655768	NM_007289.4(MME):c.197-20T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239945	NM_007289.4(MME):c.197-15T>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 735468	NM_007289.4(MME):c.197-4G>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2573557	NM_007289.4(MME):c.197-3C>T	MME	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 851617	NM_007289.4(MME):c.202C>T (p.Arg68Ter)	MME (R68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2203457	NM_007289.4(MME):c.217A>G (p.Met73Val)	MME (M73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479782	NM_007289.4(MME):c.224C>G (p.Ala75Gly)	MME (A75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365852	NM_007289.4(MME):c.226A>G (p.Thr76Ala)	MME (T76A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237366	NM_007289.4(MME):c.238T>C (p.Cys80Arg)	MME (C80R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 1193349	NM_007289.4(MME):c.239G>A (p.Cys80Tyr)	MME (C80Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1553838	NM_007289.4(MME):c.240T>C (p.Cys80=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411611	NM_007289.4(MME):c.245A>T (p.Asp82Val)	MME (D82V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878612	NM_007289.4(MME):c.258T>C (p.Tyr86=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615740	NM_007289.4(MME):c.264C>T (p.Cys88=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382696	NM_007289.4(MME):c.264C>A (p.Cys88Ter)	MME (C88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1700953	NM_007289.4(MME):c.265G>A (p.Gly89Arg)	MME (G89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468062	NM_007289.4(MME):c.269G>T (p.Gly90Val)	MME (G90V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1954774	NM_007289.4(MME):c.274T>C (p.Leu92=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335543	NM_007289.4(MME):c.280C>T (p.Arg94Cys)	MME (R94C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461936	NM_007289.4(MME):c.281G>A (p.Arg94His)	MME (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894108	NM_007289.4(MME):c.287T>C (p.Val96Ala)	MME (V96A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752201	NM_007289.4(MME):c.294C>T (p.Pro98=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451159	NM_007289.4(MME):c.298del (p.Thr100fs)	MME (T100fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 982975	NM_007289.4(MME):c.307C>T (p.Arg103Cys)	MME (R103C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 1201575	NM_007289.4(MME):c.311A>G (p.Tyr104Cys)	MME (Y104C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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