ClinVar for Gene (Select 10627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297568	NM_006471.4(MYL12A):c.235C>T (p.Pro79Ser)	MYL12A (P85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159335	NM_006471.4(MYL12A):c.5C>G (p.Ser2Trp)	MYL12A (S2W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684862	GRCh37/hg19 18p11.31(chr18:3053309-3342519)x3	MYL12A, MYL12B +1 more	Copy number gain	not provided	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2424763	NC_000018.9:g.(?_2656075)_(3457938_?)del	EMILIN2, LPIN2 +5 more	Deletion	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2332261	NM_006471.4(MYL12A):c.70A>G (p.Met24Val)	MYL12A (M24V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278619	NM_006471.4(MYL12A):c.292C>T (p.Pro98Ser)	MYL12A (P104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244684	NM_006471.4(MYL12A):c.106G>A (p.Ala36Thr)	MYL12A (A36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809455	GRCh37/hg19 18p11.32-11.31(chr18:2818532-3412231)x3	EMILIN2, LPIN2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808999	GRCh37/hg19 18p11.31(chr18:3031067-3363755)x3	MYL12A, MYL12B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808701	GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1	DLGAP1, DLGAP1-AS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1807658	GRCh37/hg19 18p11.32-11.31(chr18:2485817-4086341)x3	DLGAP1, DLGAP1-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	ADCYAP1, AKAIN1 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	IMPA2, L3MBTL4 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526598	GRCh37/hg19 18p11.32-11.31(chr18:2885234-3410242)	EMILIN2, LPIN2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1452047	NC_000018.9:g.(?_2847807)_(3582246_?)del	EMILIN2, LPIN2 +5 more	Deletion	Holoprosencephaly 4	GPathogenic
Select item 1411846	NC_000018.9:g.(?_2920291)_(3457938_?)dup	LPIN2, MYL12A +3 more	Duplication	Majeed syndrome	GUncertain significance
Select item 1340907	GRCh37/hg19 18p11.32-11.31(chr18:983212-3261236)x1	EMILIN2, LPIN2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 929359	GRCh37/hg19 18p11.31(chr18:3162390-4390081)x1	DLGAP1, DLGAP1-AS2 +4 more	Copy number loss	See cases	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815978	GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1	AKAIN1, EPB41L3 +31 more	Copy number loss	not provided	GPathogenic
Select item 815967	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ZBTB14, MYL12A +19 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 815963	GRCh37/hg19 18p11.32-11.31(chr18:2885234-3405357)x3	MYL12A, EMILIN2 +3 more	Copy number gain	not provided	GLikely benign
Select item 815962	GRCh37/hg19 18p11.31(chr18:3114258-3377842)x3	MYOM1, MYL12B +1 more	Copy number gain	not provided	GUncertain significance
Select item 768927	NM_006471.4(MYL12A):c.237C>T (p.Pro79=)	MYL12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685645	GRCh37/hg19 18p11.31(chr18:2964729-3334683)x3	LPIN2, MYL12A +2 more	Copy number gain	not provided	GUncertain significance
Select item 635884	Single allele	EMILIN2, LPIN2 +3 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 564557	GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1	LRRC30, USP14 +38 more	Copy number loss	not provided	GPathogenic
Select item 564555	GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1	TMEM200C, COLEC12 +28 more	Copy number loss	not provided	GPathogenic
Select item 564552	GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1	LPIN2, SMCHD1 +19 more	Copy number loss	not provided	GPathogenic
Select item 560039	Single allele	ADCYAP1, AKAIN1 +27 more	Duplication	not provided	GPathogenic
Select item 523239	GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)	MYL12B, SMCHD1 +7 more	Copy number loss	Alopecia +4 more	GUncertain significance
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 443762	GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3	AKAIN1, ANKRD12 +23 more	Copy number gain	See cases	GPathogenic
Select item 442789	GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 442720	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442363	GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1	AKAIN1, DLGAP1 +8 more	Copy number loss	See cases	GPathogenic
Select item 441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 441886	GRCh37/hg19 18p11.32-11.31(chr18:136226-5323941)x1	ADCYAP1, AKAIN1 +21 more	Copy number loss	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253735	GRCh37/hg19 18p11.31(chr18:3211217-3469928)x3	MYL12A, MYOM1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253646	GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1	LAMA1, CETN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 253644	GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3	SMCHD1, ZBTB14 +27 more	Copy number gain	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155584	GRCh38/hg38 18p11.31(chr18:3132909-3439461)x3	LINC01895, LOC112543419 +17 more	Copy number gain	See cases	GUncertain significance

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